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

19 papers

NM_020975.6

p.R912Q

c.2735G>A

Surrounding Variants

51 papers

NM_020975.6

p.R912P

c.2735G>C

4 papers

NM_020975.6

p.R912L

c.2735G>T

12 papers

NM_020975.6

p.R912W

c.2734C>T

1 paper

NM_020975.6

p.G911G

c.2733T>C

1 paper

NM_020975.6

p.G911G

c.2733T>G

8 papers

NM_020975.6

p.G911D

c.2732G>A

1 paper

NM_020975.6

p.G911A

c.2732G>C

1 paper

NM_020975.6

p.G911S

c.2731G>A

1 paper

NM_020975.6

p.G911C

c.2731G>T

1 paper

NM_020975.6

p.P914A

c.2740C>G

1 paper

NM_020975.6

p.P914S

c.2740C>T

1 paper

NM_020975.6

p.Q910_G911Splc

c.2731-2A>G