Varaico: Literature-Extracted Genetic Variants

Gene:CCDC22
Variant:p.V171A

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
Selected Variant
1 paper
NM_014008.5
p.V171A
c.512T>C
Surrounding Variants
3 papers
NM_014008.5
p.V171L
c.511G>T
2 papers
NM_014008.5
p.P172delins
c.514_515delinsAG
2 papers
NM_014008.5
p.P172R
c.515C>G
3 papers
NM_014008.5
p.S167R
c.501C>A
1 paper
NM_014008.5
p.G157S
c.469G>A
3 papers
NM_014008.5
p.R181R
c.541C>A
3 papers
NM_014008.5
p.V203V
c.609G>T
3 papers
NM_014008.5
p.E208K
c.622G>A
1 paper
NM_014008.5
p.A139V
c.416C>T
3 papers
NM_014008.5
p.S132C
c.394A>T
3 papers
NM_014008.5
p.R222L
c.665G>T
5 papers
NM_014008.5
p.R128Q
c.383G>A
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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."