Varaico: Literature-Extracted Genetic Variants

Gene:C8G
Variant:p.V127L

C8G

218 papers

RefSeq Summary

The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma h...

Pfam Domains

Lipocalinaa 48–186UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

complement C8 gamma chain

HGNC Previous Name

complement component 8, gamma polypeptide

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000606.3
p.V127L
c.379G>C
Surrounding Variants
1 paper
NM_000606.3
p.H124N
c.370C>A
1 paper
NM_000606.3
p.D131Y
c.391G>T
1 paper
NM_000606.3
p.Q133K
c.397C>A
2 papers
NM_000606.3
p.R120Q
c.359G>A
1 paper
NM_000606.3
p.R120P
c.359G>C
1 paper
NM_000606.3
p.D118G
c.353A>G
1 paper
NM_000606.3
p.R117Q
c.350G>A
1 paper
NM_000606.3
p.R142W
c.424C>T
1 paper
NM_000606.3
p.R142Q
c.425G>A
1 paper
NM_000606.3
p.K149K
c.447G>A
1 paper
NM_000606.3
p.G110S
c.328G>A
1 paper
NM_000606.3
p.Q101H
c.303G>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."