Varaico: Literature-Extracted Genetic Variants

RET

5,388 papers

RefSeq Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related...

Pfam Domains

RET_CLD1aa 29–154UCSCRET Cadherin like domain 1

Cadherinaa 172–261UCSCCadherin domain

RET_CLD3aa 265–379UCSCRET Cadherin like domain 3

RET_CLD4aa 282–375UCSCRET Cadherin like domain 4

RET_CLD4aa 404–507UCSCRET Cadherin like domain 4

RET_CRDaa 518–620UCSCRET, Cysteine Rich Domain

Gene Aliases

HGNC Name

ret proto-oncogene

HGNC Previous Symbols

HSCR1; MEN2A; MTC1; MEN2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020975.6

p.T503_V504insFs

c.1509_1510insG

Surrounding Variants

4 papers

NM_020975.6

p.E505_G506del0

c.1513_1518del6

1 paper

NM_020975.6

p.E505V

c.1514A>T

1 paper

NM_020975.6

p.G506W

c.1516G>T

1 paper

NM_020975.6

p.L501V

c.1501C>G

1 paper

NM_020975.6

p.G506G

c.1518G>T

1 paper

NM_020975.6

p.S507fs

c.1519_1520fs

1 paper

NM_020975.6

p.Y508H

c.1522T>C

1 paper

NM_020975.6

p.Y508C

c.1523A>G

1 paper

NM_020975.6

p.Q499*

c.1495C>T

1 paper

NM_020975.6

p.Y508Splc

c.1522+1G>T

2 papers

NM_020975.6

p.A498V

c.1493C>T

1 paper

NM_020975.6

p.A498P

c.1492G>C