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

2 papers

NM_020975.6

p.C243Y

c.728G>A

Surrounding Variants

1 paper

NM_020975.6

p.C243F

c.728G>T

2 papers

NM_020975.6

p.C243R

c.727T>C

1 paper

NM_020975.6

p.C243G

c.727T>G

1 paper

NM_020975.6

p.V242V

c.726G>T

6 papers

NM_020975.6

p.T244I

c.731C>T

1 paper

NM_020975.6

p.V242A

c.725T>C

1 paper

NM_020975.6

p.V242delFs

c.726delG

3 papers

NM_020975.6

p.V242M

c.724G>A

1 paper

NM_020975.6

p.V242L

c.724G>T

1 paper

NM_020975.6

p.A241_V242insFs

c.723_724insTT

7 papers

NM_020975.6

p.V245M

c.733G>A

1 paper

NM_020975.6

p.A241G

c.722C>G