Varaico: Literature-Extracted Genetic Variants

Gene:C8G

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
1–12 of 35 variants
176 papers
NM_000606.3
p.P3R
c.8C>G
11 papers
NM_000606.3
p.P3H
c.8C>A
3 papers
NM_000606.3
p.V196I
c.586G>A
2 papers
NM_000606.3
p.P23A
c.67C>G
2 papers
NM_000606.3
p.R120Q
c.359G>A
1 paper
NM_000606.3
p.P4delFs
c.12delT
1 paper
NM_000606.3
p.Q24R
c.71A>G
1 paper
NM_000606.3
p.Q24H
c.72G>C
1 paper
NM_000606.3
p.Q24H
c.72G>T
1 paper
NM_000606.3
p.R27H
c.80G>A
1 paper
NM_000606.3
p.A30T
c.88G>A
1 paper
NM_000606.3
p.S31C
c.92C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."