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

76 papers

NM_020975.6

p.D631Y

c.1891G>T

Surrounding Variants

14 papers

NM_020975.6

p.D631N

c.1891G>A

1 paper

NM_020975.6

p.D631_R635ins1

c.1892_1903dup12

1 paper

NM_020975.6

p.D631_L633delins

c.1891_1898delinsTC

1 paper

NM_020975.6

p.D631_R635del0

c.1892_1903del12

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

2 papers

NM_020975.6

p.E632_C634del0

c.1894_1902del9

1 paper

NM_020975.6

p.D631_I638delins

c.1892_1914delinsCG

5 papers

NM_020975.6

p.C630*

c.1890C>A