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.Y76Y

c.228C>T

Surrounding Variants

1 paper

NM_020975.6

p.R77delFs

c.229_230delCG

1 paper

NM_020975.6

p.R77insFs

c.229dupC

2 papers

NM_020975.6

p.Y76C

c.227A>G

1 paper

NM_020975.6

p.Y76F

c.227A>T

2 papers

NM_020975.6

p.R77S

c.229C>A

22 papers

NM_020975.6

p.R77C

c.229C>T

8 papers

NM_020975.6

p.R77H

c.230G>A

6 papers

NM_020975.6

p.R77L

c.230G>T

2 papers

NM_020975.6

p.R77R

c.231C>T

2 papers

NM_020975.6

p.T75T

c.225G>A

1 paper

NM_020975.6

p.T75_Y76insFs

c.225_226insA

1 paper

NM_020975.6

p.T75_Y76insFs

c.225_226insAC