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.E632delFs

c.1894delG

Surrounding Variants

7 papers

NM_020975.6

p.D631E

c.1893C>A

7 papers

NM_020975.6

p.D631E

c.1893C>G

2 papers

NM_020975.6

p.D631D

c.1893C>T

1 paper

NM_020975.6

p.D631_L633delins

c.1893_1899delinsA

20 papers

NM_020975.6

p.E632_L633del0

c.1894_1899del6

1 paper

NM_020975.6

p.E632_C634delFs

c.1894_1900del7

2 papers

NM_020975.6

p.E632_R635delFs

c.1894_1904del11

2 papers

NM_020975.6

p.D631A

c.1892A>C

18 papers

NM_020975.6

p.D631G

c.1892A>G

6 papers

NM_020975.6

p.D631V

c.1892A>T

1 paper

NM_020975.6

p.D631delins

c.1892_1893delinsCG

16 papers

NM_020975.6

p.D631_L633del0

c.1893_1898del6