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.E90_D91delFs

c.269_273del5

Surrounding Variants

1 paper

NM_020975.6

p.E90V

c.269A>T

1 paper

NM_020975.6

p.Q89H

c.267G>C

1 paper

NM_020975.6

p.Q89H

c.267G>T

1 paper

NM_020975.6

p.Q89L

c.266A>T

1 paper

NM_020975.6

p.D91_L94del0

c.271_282del12

1 paper

NM_020975.6

p.Q89E

c.265C>G

1 paper

NM_020975.6

p.D91Y

c.271G>T

1 paper

NM_020975.6

p.D91V

c.272A>T

2 papers

NM_020975.6

p.I88I

c.264C>A

1 paper

NM_020975.6

p.I88I

c.264C>T

1 paper

NM_020975.6

p.T92_G93insT

c.274_278ins3

4 papers

NM_020975.6

p.I88V

c.262A>G