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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). RET germline mutations result in MEN2 syndromes and familial medullary thyroid carcinoma (PMID: 20930041, PMID: 24561444) and somatic RET activating mutations, fusions, and Ret overexpression has been associated with a variety of cancers including lung (PMID: 30257958) and colorectal (PMID: 30210625, PMID: 30038711).
ACMG Incidental List v2.0:
Yes, Multiple endocrine neoplasia, type 2a (PMID: 27854360)
Yes, Familial medullary thyroid carcinoma (PMID: 27854360)
Yes, Multiple endocrine neoplasia, type 2b (PMID: 27854360)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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.
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.
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.
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.
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.
fusion fusion unknown RET fusion indicates a fusion of the RET gene, but the fusion partner is unknown.
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.