Varaico: Literature-Extracted Genetic Variants

Gene:CCDC22

CCDC22

92 papers

RefSeq Summary

This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting wi...

Pfam Domains

CCDC22_Naa 1–109UCSCCCDC22 protein N-terminal domain
CCDC22_CCaa 128–597UCSCCCDC22 protein coiled-coil region

Gene Aliases

HGNC Name

CCC complex scaffolding subunit CCDC22

HGNC Previous Symbol

CXorf37

Papers
RefSeq ID
Protein change
DNA change
1–12 of 134 variants
15 papers
NM_014008.5
p.T17A
c.49A>G
11 papers
NM_014008.5
p.Y557C
c.1670A>G
5 papers
NM_014008.5
p.R128Q
c.383G>A
4 papers
NM_014008.5
p.T30A
c.88A>G
4 papers
NM_014008.5
p.R321W
c.961C>T
4 papers
NM_014008.5
p.V344A
c.1031T>C
4 papers
NM_014008.5
p.R582W
c.1744C>T
3 papers
NM_014008.5
p.E3K
c.7G>A
3 papers
NM_014008.5
p.R43R
c.129T>A
3 papers
NM_014008.5
p.V44V
c.132G>C
3 papers
NM_014008.5
p.G52S
c.154G>A
3 papers
NM_014008.5
p.G52R
c.154G>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."