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.C659Y

c.1976G>A

Surrounding Variants

1 paper

NM_020975.6

p.C659W

c.1977C>G

1 paper

NM_020975.6

p.H658Q

c.1974C>A

1 paper

NM_020975.6

p.H658Q

c.1974C>G

1 paper

NM_020975.6

p.H658R

c.1973A>G

1 paper

NM_020975.6

p.Y660F

c.1979A>T

3 papers

NM_020975.6

p.H658Y

c.1972C>T

1 paper

NM_020975.6

p.H661Y

c.1981C>T

2 papers

NM_020975.6

p.I657S

c.1970T>G

1 paper

NM_020975.6

p.H661H

c.1983C>T

1 paper

NM_020975.6

p.K662delFs

c.1984delA

1 paper

NM_020975.6

p.K662E

c.1984A>G

1 paper

NM_020975.6

p.C656*

c.1968C>A