Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.L12P

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.L12P
c.35T>C
Surrounding Variants
1 paper
NM_000160.5
p.L12R
c.35T>G
1 paper
NM_000160.5
p.L13V
c.37T>G
1 paper
NM_000160.5
p.L10Q
c.29T>A
1 paper
NM_000160.5
p.L14L
c.42G>A
1 paper
NM_000160.5
p.P9L
c.26C>T
1 paper
NM_000160.5
p.L16V
c.46C>G
1 paper
NM_000160.5
p.R8Q
c.23G>A
4 papers
NM_000160.5
p.R8*
c.22C>T
1 paper
NM_000160.5
p.L17P
c.50T>C
1 paper
NM_000160.5
p.A18D
c.53C>A
1 paper
NM_000160.5
p.Q5P
c.14A>C
1 paper
NM_000160.5
p.C19W
c.57C>G
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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."