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.D302N

c.904G>A

Surrounding Variants

1 paper

NM_020975.6

p.D302G

c.905A>G

2 papers

NM_020975.6

p.A301V

c.902C>T

1 paper

NM_020975.6

p.A301T

c.901G>A

1 paper

NM_020975.6

p.D300D

c.900T>C

1 paper

NM_020975.6

p.D300E

c.900T>G

1 paper

NM_020975.6

p.D300G

c.899A>G

4 papers

NM_020975.6

p.D300N

c.898G>A

1 paper

NM_020975.6

p.V304_P305insFs

c.912_913insT

1 paper

NM_020975.6

p.P305S

c.913C>T

1 paper

NM_020975.6

p.P305R

c.914C>G

2 papers

NM_020975.6

p.P305L

c.914C>T

1 paper

NM_020975.6

p.V298I

c.892G>A