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.E595_P596insFs

c.1785_1786insA

Surrounding Variants

3 papers

NM_020975.6

p.E595D

c.1785G>C

3 papers

NM_020975.6

p.E595D

c.1785G>T

1 paper

NM_020975.6

p.E595A

c.1784A>C

4 papers

NM_020975.6

p.E595G

c.1784A>G

1 paper

NM_020975.6

p.P596H

c.1787C>A

2 papers

NM_020975.6

p.P596L

c.1787C>T

3 papers

NM_020975.6

p.E595K

c.1783G>A

2 papers

NM_020975.6

p.E595Q

c.1783G>C

1 paper

NM_020975.6

p.E595insFs

c.1783_1784ins4

1 paper

NM_020975.6

p.H594Q

c.1782C>G

1 paper

NM_020975.6

p.H594H

c.1782C>T

1 paper

NM_020975.6

p.G597del1

c.1789_1790delGGG