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.G308V

c.923G>T

Surrounding Variants

1 paper

NM_020975.6

p.G308E

c.923G>A

2 papers

NM_020975.6

p.G308_E309insFs

c.924_925insC

1 paper

NM_020975.6

p.G308_E309insGT

c.922_926ins6

1 paper

NM_020975.6

p.G308W

c.922G>T

1 paper

NM_020975.6

p.G308G

c.924G>T

1 paper

NM_020975.6

p.E309*

c.925G>T

1 paper

NM_020975.6

p.E309insFs

c.926_927insG

1 paper

NM_020975.6

p.E309D

c.927G>C

1 paper

NM_020975.6

p.E309D

c.927G>T

1 paper

NM_020975.6

p.S307insFs

c.919_920insC

1 paper

NM_020975.6

p.L310M

c.928C>A

1 paper

NM_020975.6

p.A306G

c.917C>G