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.W85R

c.253T>A

Surrounding Variants

1 paper

NM_020975.6

p.W85G

c.253T>G

3 papers

NM_020975.6

p.W85_I86insC

c.253_257ins3

1 paper

NM_020975.6

p.N84K

c.252C>A

8 papers

NM_020975.6

p.W85*

c.254G>A

1 paper

NM_020975.6

p.N84T

c.251A>C

1 paper

NM_020975.6

p.N84S

c.251A>G

2 papers

NM_020975.6

p.N84I

c.251A>T

1 paper

NM_020975.6

p.N84delFs

c.252delC

5 papers

NM_020975.6

p.W85*

c.255G>A

1 paper

NM_020975.6

p.W85_I86insFs

c.255_256insC

1 paper

NM_020975.6

p.W85_I86insFs

c.255_256insCA

1 paper

NM_020975.6

p.W85_I86insFs

c.255_256ins4