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

1 paper

NM_020975.6

p.A217V

c.650C>T

Surrounding Variants

1 paper

NM_020975.6

p.A217A

c.651C>T

2 papers

NM_020975.6

p.P218S

c.652C>T

2 papers

NM_020975.6

p.P218R

c.653C>G

3 papers

NM_020975.6

p.C216S

c.647G>C

2 papers

NM_020975.6

p.P218P

c.654G>A

2 papers

NM_020975.6

p.P218P

c.654G>T

1 paper

NM_020975.6

p.D219delFs

c.655_656delGA

3 papers

NM_020975.6

p.C216S

c.646T>A

1 paper

NM_020975.6

p.C216_A217insC

c.646_650ins3

3 papers

NM_020975.6

p.R215H

c.644G>A

2 papers

NM_020975.6

p.R215L

c.644G>T

2 papers

NM_020975.6

p.R215S

c.643C>A