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

6 papers

NM_020975.6

p.E136K

c.406G>A

Surrounding Variants

1 paper

NM_020975.6

p.E136Q

c.406G>C

7 papers

NM_020975.6

p.E136*

c.406G>T

3 papers

NM_020975.6

p.G135G

c.405C>T

3 papers

NM_020975.6

p.G135D

c.404G>A

4 papers

NM_020975.6

p.G135A

c.404G>C

1 paper

NM_020975.6

p.G135V

c.404G>T

1 paper

NM_020975.6

p.G135S

c.403G>A

1 paper

NM_020975.6

p.C137G

c.409T>G

1 paper

NM_020975.6

p.E134_G135del1

c.402_404delGGG

1 paper

NM_020975.6

p.E134delFs

c.400delG

4 papers

NM_020975.6

p.R133H

c.398G>A

1 paper

NM_020975.6

p.R133P

c.398G>C