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

2 papers

NM_020975.6

p.P259P

c.777G>C

Surrounding Variants

1 paper

NM_020975.6

p.V260_T261del2

c.778_782del6

1 paper

NM_020975.6

p.P259Q

c.776C>A

1 paper

NM_020975.6

p.P259insFs

c.777dupG

2 papers

NM_020975.6

p.V260M

c.778G>A

1 paper

NM_020975.6

p.P259A

c.775C>G

1 paper

NM_020975.6

p.T261A

c.781A>G

1 paper

NM_020975.6

p.T261delFs

c.783delC

1 paper

NM_020975.6

p.F258Y

c.773T>A

3 papers

NM_020975.6

p.P259delFs

c.776delC

1 paper

NM_020975.6

p.F258fs

c.772_773fs

1 paper

NM_020975.6

p.P257L

c.770C>T

1 paper

NM_020975.6

p.P257_V260delFs

c.771_780del10