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.F433_S434insFs

c.1299_1300insA

Surrounding Variants

1 paper

NM_020975.6

p.F433delFs

c.1299delC

2 papers

NM_020975.6

p.S434N

c.1301G>A

1 paper

NM_020975.6

p.A432A

c.1296A>C

33 papers

NM_020975.6

p.A432A

c.1296A>G

5 papers

NM_020975.6

p.A432E

c.1295C>A

3 papers

NM_020975.6

p.A432V

c.1295C>T

1 paper

NM_020975.6

p.G435D

c.1304G>A

1 paper

NM_020975.6

p.G435insFs

c.1304_1305insA

1 paper

NM_020975.6

p.Q431Q

c.1293G>A

1 paper

NM_020975.6

p.Q431H

c.1293G>C

1 paper

NM_020975.6

p.I436V

c.1306A>G

1 paper

NM_020975.6

p.Q431delFs

c.1293delG