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

5 papers

NM_020975.6

p.Y263*

c.789C>G

Surrounding Variants

4 papers

NM_020975.6

p.Y263*

c.789C>A

1 paper

NM_020975.6

p.D264E

c.792C>G

1 paper

NM_020975.6

p.Y263insFs

c.787_788insTT

1 paper

NM_020975.6

p.E265K

c.793G>A

1 paper

NM_020975.6

p.V262E

c.785T>A

16 papers

NM_020975.6

p.V262A

c.785T>C

4 papers

NM_020975.6

p.V262M

c.784G>A

1 paper

NM_020975.6

p.E265E

c.795G>A

1 paper

NM_020975.6

p.D266N

c.796G>A

1 paper

NM_020975.6

p.T261A

c.781A>G

1 paper

NM_020975.6

p.D266G

c.797A>G

1 paper

NM_020975.6

p.D266V

c.797A>T