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

114 papers

NM_020975.6

p.C634S

c.1901G>C

Surrounding Variants

420 papers

NM_020975.6

p.C634Y

c.1901G>A

160 papers

NM_020975.6

p.C634F

c.1901G>T

3 papers

NM_020975.6

p.C634delins

c.1901_1902delinsTG

1 paper

NM_020975.6

p.C634delins

c.1901_1902delinsTT

23 papers

NM_020975.6

p.C634*

c.1902C>A

327 papers

NM_020975.6

p.C634W

c.1902C>G

2 papers

NM_020975.6

p.C634C

c.1902C>T

113 papers

NM_020975.6

p.C634S

c.1900T>A

736 papers

NM_020975.6

p.C634R

c.1900T>C

149 papers

NM_020975.6

p.C634G

c.1900T>G

8 papers

NM_020975.6

p.R635G

c.1903C>G

10 papers

NM_020975.6

p.R635C

c.1903C>T