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.V125insFs

c.373_374ins11

Surrounding Variants

1 paper

NM_020975.6

p.V125I

c.373G>A

2 papers

NM_020975.6

p.V125insFs

c.373_374insA

1 paper

NM_020975.6

p.V125insFs

c.374_375dupTC

2 papers

NM_020975.6

p.V125D

c.374T>A

1 paper

NM_020975.6

p.V125A

c.374T>C

1 paper

NM_020975.6

p.V125G

c.374T>G

1 paper

NM_020975.6

p.K124R

c.371A>G

10 papers

NM_020975.6

p.V125V

c.375C>A

1 paper

NM_020975.6

p.V125_F126insFs

c.375_376insAA

1 paper

NM_020975.6

p.K124insFs

c.370_371ins5

1 paper

NM_020975.6

p.K124fs

c.370_371fs

1 paper

NM_020975.6

p.F126L

c.376T>C