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.V42Fs

c.125delinsTTFs

Surrounding Variants

3 papers

NM_020975.6

p.V42M

c.124G>A

1 paper

NM_020975.6

p.V42A

c.125T>C

1 paper

NM_020975.6

p.V42G

c.125T>G

1 paper

NM_020975.6

p.V42insFs

c.124_125dupGT

1 paper

NM_020975.6

p.Y41C

c.122A>G

3 papers

NM_020975.6

p.V42V

c.126G>T

2 papers

NM_020975.6

p.D43N

c.127G>A

2 papers

NM_020975.6

p.D43_Q44ins9

c.127_131ins27

1 paper

NM_020975.6

p.Y41H

c.121T>C

1 paper

NM_020975.6

p.D43V

c.128A>T

1 paper

NM_020975.6

p.Q44_A46del3

c.130_137del9

1 paper

NM_020975.6

p.L40L

c.120G>A