Varaico: Literature-Extracted Genetic Variants

Gene:C8G
Variant:p.Q24H

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.Q24H
c.72G>C
Surrounding Variants
1 paper
NM_000606.3
p.Q24H
c.72G>T
1 paper
NM_000606.3
p.Q24R
c.71A>G
2 papers
NM_000606.3
p.P23A
c.67C>G
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
1 paper
NM_000606.3
p.P38L
c.113C>T
1 paper
NM_000606.3
p.A44A
c.132T>G
1 paper
NM_000606.3
p.P4delFs
c.12delT
11 papers
NM_000606.3
p.P3H
c.8C>A
176 papers
NM_000606.3
p.P3R
c.8C>G
1 paper
NM_000606.3
p.V54G
c.161T>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."