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.A203T

c.607G>A

Surrounding Variants

1 paper

NM_020975.6

p.A203P

c.607G>C

1 paper

NM_020975.6

p.V202V

c.606G>A

16 papers

NM_020975.6

p.A203A

c.609C>G

1 paper

NM_020975.6

p.A203A

c.609C>T

1 paper

NM_020975.6

p.V202A

c.605T>C

1 paper

NM_020975.6

p.A203_L206delFs

c.609_616del8

14 papers

NM_020975.6

p.V202M

c.604G>A

1 paper

NM_020975.6

p.V202L

c.604G>C

1 paper

NM_020975.6

p.Y204C

c.611A>G

1 paper

NM_020975.6

p.V202delFs

c.604delG

2 papers

NM_020975.6

p.Y204*

c.612C>A

2 papers

NM_020975.6

p.Y204*

c.612C>G