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.W334S

c.1001G>C

Surrounding Variants

1 paper

NM_020975.6

p.P335Fs

c.1003delinsGAFs

1 paper

NM_020975.6

p.P335fs

c.1003_1004fs

2 papers

NM_020975.6

p.P335L

c.1004C>T

1 paper

NM_020975.6

p.N336del1

c.1006_1008delAAC

2 papers

NM_020975.6

p.N336insFs

c.1007_1008insA

1 paper

NM_020975.6

p.H333_T338insFs

c.999_1012dup14

1 paper

NM_020975.6

p.P335P

c.1005C>G

1 paper

NM_020975.6

p.P335P

c.1005C>T

1 paper

NM_020975.6

p.E332*

c.994G>T

4 papers

NM_020975.6

p.E337K

c.1009G>A

1 paper

NM_020975.6

p.V331V

c.993G>A

1 paper

NM_020975.6

p.E337V

c.1010A>T