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.G69D

c.206G>A

Surrounding Variants

1 paper

NM_020975.6

p.Q70*

c.208C>T

3 papers

NM_020975.6

p.Q70L

c.209A>T

1 paper

NM_020975.6

p.L68Q

c.203T>A

1 paper

NM_020975.6

p.L68L

c.202C>T

1 paper

NM_020975.6

p.H71insFs

c.211_212ins5

1 paper

NM_020975.6

p.Q70H

c.210G>T

1 paper

NM_020975.6

p.H71_L72insCC

c.211_215ins6

2 papers

NM_020975.6

p.H71Y

c.211C>T

1 paper

NM_020975.6

p.H71_L72insFs

c.213_214insT

33 papers

NM_020975.6

p.R67H

c.200G>A

1 paper

NM_020975.6

p.L68insFs

c.202dupC

3 papers

NM_020975.6

p.R67ins1

c.200_201insTCC