Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.E245A

GCGR

217 papers

RefSeq Summary

The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[prov...

Pfam Domains

HRMaa 55–124UCSCHormone receptor domain
7tm_2aa 138–396UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

glucagon receptor

HGNC Alias Symbol

GGR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000160.5
p.E245A
c.734A>C
Surrounding Variants
1 paper
NM_000160.5
p.E245Q
c.733G>C
1 paper
NM_000160.5
p.V244A
c.731T>C
1 paper
NM_000160.5
p.L249V
c.745C>G
1 paper
NM_000160.5
p.C240S
c.719G>C
1 paper
NM_000160.5
p.C240F
c.719G>T
1 paper
NM_000160.5
p.C240S
c.718T>A
1 paper
NM_000160.5
p.Y239C
c.716A>G
1 paper
NM_000160.5
p.N251S
c.752A>G
1 paper
NM_000160.5
p.N251I
c.752A>T
1 paper
NM_000160.5
p.N251K
c.753C>A
1 paper
NM_000160.5
p.N251K
c.753C>G
1 paper
NM_000160.5
p.G254R
c.760G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."