Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene RET
Variant R144H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions RET R144H lies within the extracellular domain of the Ret protein (UniProt.org). R144H results in phosphorylation of Ret and Erk similar to wild-type in cell culture (PMID: 26395553), and therefore, is predicted to have no effect on Ret protein function.
Associated Drug Resistance
Category Variants Paths

RET mutant RET R144H

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_020975.6
gDNA chr10:g.43102435G>A
cDNA c.431G>A
Protein p.R144H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.5 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406782.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406780.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406787.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406784.1 chr10:g.43111364_43111365delGGinsAT c.431_432delGGinsAT p.R144H RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406779.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406772.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406785.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38
NM_001406781.1 chr10:g.43102435G>A c.431G>A p.R144H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References