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

25 papers

NM_020975.6

p.Y606C

c.1817A>G

Surrounding Variants

1 paper

NM_020975.6

p.Y606F

c.1817A>T

1 paper

NM_020975.6

p.Y606H

c.1816T>C

3 papers

NM_020975.6

p.Y606_G607insFs

c.1818_1819ins5

2 papers

NM_020975.6

p.Y606fs

c.1816_1817fs

1 paper

NM_020975.6

p.G607C

c.1819G>T

2 papers

NM_020975.6

p.G605D

c.1814G>A

1 paper

NM_020975.6

p.G607V

c.1820G>T

1 paper

NM_020975.6

p.A604T

c.1810G>A

1 paper

NM_020975.6

p.A604S

c.1810G>T

2 papers

NM_020975.6

p.K603N

c.1809A>C

2 papers

NM_020975.6

p.K603N

c.1809A>T

44 papers

NM_020975.6

p.C609S

c.1825T>A