Varaico: Literature-Extracted Genetic Variants

GHR

434 papers

RefSeq Summary

This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and th...

Pfam Domains

EpoR_lig-bindaa 43–144UCSCErythropoietin receptor, ligand binding

fn3aa 159–250UCSCFibronectin type III domain

GHBPaa 316–617UCSCGrowth hormone receptor binding

Gene Aliases

HGNC Name

growth hormone receptor

HGNC Alias Symbol

GHBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000163.5

p.K541N

c.1623A>C

Surrounding Variants

3 papers

NM_000163.5

p.K541N

c.1623A>T

1 paper

NM_000163.5

p.A540T

c.1618G>A

24 papers

NM_000163.5

p.I544L

c.1630A>C

NM_001242399.2

p.I551L

c.1651A>C

1 paper

NM_000163.5

p.A538E

c.1613C>A

1 paper

NM_001242399.2

p.V553M

c.1657G>A

2 papers

NM_000163.5

p.Y534F

c.1601A>T

1 paper

NM_000163.5

p.I556_Q557delins

c.1668_1669delinsTA

1 paper

NM_000163.5

p.Q557K

c.1669C>A

1 paper

NM_000163.5

p.E526K

c.1576G>A

1 paper

NM_000163.5

p.P558Q

c.1673C>A

1 paper

NM_000163.5

p.C524Y

c.1571G>A

1 paper

NM_000163.5

p.Y566F

c.1697A>T