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

10 papers

NM_020975.6

p.R313Q

c.938G>A

Surrounding Variants

1 paper

NM_020975.6

p.R313L

c.938G>T

1 paper

NM_020975.6

p.R313G

c.937C>G

8 papers

NM_020975.6

p.R313W

c.937C>T

1 paper

NM_020975.6

p.Y314C

c.941A>G

1 paper

NM_020975.6

p.T315P

c.943A>C

1 paper

NM_020975.6

p.T315A

c.943A>G

19 papers

NM_020975.6

p.T315I

c.944C>T

1 paper

NM_020975.6

p.V311A

c.932T>C

1 paper

NM_020975.6

p.V311L

c.931G>C

1 paper

NM_020975.6

p.V311L

c.931G>T

1 paper

NM_020975.6

p.S316G

c.946A>G

1 paper

NM_020975.6

p.S316delFs

c.947delG