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

4 papers

NM_020975.6

p.V331M

c.991G>A

Surrounding Variants

1 paper

NM_020975.6

p.V331L

c.991G>C

1 paper

NM_020975.6

p.V331_E332insTA

c.991_995ins6

1 paper

NM_020975.6

p.V331L

c.991G>T

19 papers

NM_020975.6

p.R330Q

c.989G>A

1 paper

NM_020975.6

p.V331V

c.993G>A

1 paper

NM_020975.6

p.R330L

c.989G>T

7 papers

NM_020975.6

p.R330W

c.988C>T

1 paper

NM_020975.6

p.R330_V331del1

c.989_991delGGG

1 paper

NM_020975.6

p.E332*

c.994G>T

3 papers

NM_020975.6

p.F329L

c.987C>A

3 papers

NM_020975.6

p.F329L

c.987C>G

1 paper

NM_020975.6

p.F329F

c.987C>T