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.C515delins

c.1544_1545delinsCT

Surrounding Variants

24 papers

NM_020975.6

p.C515S

c.1544G>C

6 papers

NM_020975.6

p.P516insFs

c.1546_1547insC

1 paper

NM_020975.6

p.C515F

c.1544G>T

2 papers

NM_020975.6

p.P516delFs

c.1548delC

5 papers

NM_020975.6

p.C515W

c.1545C>G

24 papers

NM_020975.6

p.C515S

c.1543T>A

1 paper

NM_020975.6

p.P516S

c.1546C>T

1 paper

NM_020975.6

p.P516R

c.1547C>G

1 paper

NM_020975.6

p.P516L

c.1547C>T

1 paper

NM_020975.6

p.G514V

c.1541G>T

1 paper

NM_020975.6

p.G514S

c.1540G>A

1 paper

NM_020975.6

p.G514delFs

c.1541_1542delGC