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.R215delFs

c.644delG

Surrounding Variants

2 papers

NM_020975.6

p.R215S

c.643C>A

1 paper

NM_020975.6

p.R215C

c.643C>T

1 paper

NM_020975.6

p.F214F

c.642C>T

3 papers

NM_020975.6

p.R215H

c.644G>A

2 papers

NM_020975.6

p.R215L

c.644G>T

1 paper

NM_020975.6

p.F214C

c.641T>G

3 papers

NM_020975.6

p.C216S

c.646T>A

1 paper

NM_020975.6

p.F214V

c.640T>G

1 paper

NM_020975.6

p.C216_A217insC

c.646_650ins3

3 papers

NM_020975.6

p.C216S

c.647G>C

1 paper

NM_020975.6

p.P213_F214insT

c.637_641ins3

2 papers

NM_020975.6

p.P213S

c.637C>T