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.L72L

c.216C>T

Surrounding Variants

2 papers

NM_020975.6

p.L72P

c.215T>C

1 paper

NM_020975.6

p.Y73C

c.218A>G

1 paper

NM_020975.6

p.Y73*

c.219C>A

1 paper

NM_020975.6

p.Y73*

c.219C>G

1 paper

NM_020975.6

p.Y73Y

c.219C>T

1 paper

NM_020975.6

p.H71H

c.213T>C

1 paper

NM_020975.6

p.H71_L72insFs

c.213_214insT

5 papers

NM_020975.6

p.G74S

c.220G>A

1 paper

NM_020975.6

p.G74insFs

c.220_221insC

1 paper

NM_020975.6

p.G74ins1

c.221_222insCAG

1 paper

NM_020975.6

p.H71_L72insCC

c.211_215ins6

2 papers

NM_020975.6

p.H71Y

c.211C>T