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Gene Symbol | RET | ||||||||||
Synonyms | CDHF12 | CDHR16 | HSCR1 | MEN2A | MEN2B | MTC1 | PTC | RET-ELE1 | ||||||||||
Gene Description | RET, ret proto-oncogene, is a receptor tyrosine kinase that activates MAPK and PI3K/AKT pathways and regulates cell growth and differentiation (PMID: 24561444, PMID: 29134959, PMID: 32094155). RET germline mutations result in MEN2 syndromes and familial medullary thyroid carcinoma (PMID: 20930041, PMID: 24561444) and somatic RET activating mutations, fusions, and Ret amplification and/or overexpression has been associated with a variety of cancers including lung (PMID: 30257958) and colorectal (PMID: 30210625, PMID: 30038711). | ||||||||||
ACMG Incidental List v3.0: |
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Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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A883X | missense | unknown | RET A883X indicates any Ret missense mutation that results in replacement of the alanine (A) at amino acid 883 by a different amino acid. | |
act mut | unknown | gain of function | RET act mut indicates that this variant results in a gain of function in the Ret protein. However the specific amino acid change has not been identified. | |
C609X | missense | unknown | RET C609X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 609 by a different amino acid. | |
C611X | missense | unknown | RET C611X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 611 by a different amino acid. | |
C618X | missense | unknown | RET C618X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 618 by a different amino acid. | |
C620X | missense | unknown | RET C620X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 620 by a different amino acid. | |
C630X | missense | unknown | RET C630X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 630 by a different amino acid. | |
C634X | missense | unknown | RET C634X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 634 by a different amino acid. | |
E768X | missense | unknown | RET E768X indicates any Ret missense mutation that results in replacement of the glutamic acid (E) at amino acid 768 by a different amino acid. | |
fusion | fusion | unknown | RET fusion indicates a fusion of the RET gene, but the fusion partner is unknown. | |
inact mut | unknown | loss of function | RET inact mut indicates that this variant results in a loss of function of the Ret protein. However, the specific amino acid change has not been identified. | |
L790X | missense | unknown | RET L790X indicates any Ret missense mutation that results in replacement of the leucine (L) at amino acid 790 by a different amino acid. | |
M918X | missense | unknown | RET M918X indicates any Ret missense mutation that results in replacement of the methionine (M) at amino acid 918 by a different amino acid. | |
mutant | unknown | unknown | RET mutant indicates an unspecified mutation in the RET gene. | |
rearrange | unknown | unknown | RET rearrangement indicates an unspecified rearrangement of the RET gene. | |
S891X | missense | unknown | RET S891X indicates any Ret missense mutation that results in replacement of the serine (S) at amino acid 891 by a different amino acid. | |
V804X | missense | unknown | RET V804X indicates any Ret missense mutation that results in replacement of the valine (V) at amino acid 804 by a different amino acid. | |
Y791X | missense | unknown | RET Y791X indicates any Ret missense mutation that results in replacement of the tyrosine (Y) at amino acid 791 by a different amino acid. |