Varaico: Literature-Extracted Genetic Variants

Gene:CCDC22
Variant:p.K545_D546Splc

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.K545_D546Splc
c.1636-6G>C
Surrounding Variants
3 papers
NM_014008.5
p.D546N
c.1636G>A
11 papers
NM_014008.5
p.Y557C
c.1670A>G
1 paper
NM_014008.5
p.A562A
c.1686T>C
3 papers
NM_014008.5
p.L563M
c.1687C>A
3 papers
NM_014008.5
p.E575D
c.1725G>T
4 papers
NM_014008.5
p.R582W
c.1744C>T
3 papers
NM_014008.5
p.R582Q
c.1745G>A
3 papers
NM_014008.5
p.R582L
c.1745G>T
1 paper
NM_014008.5
p.E583G
c.1748A>G
1 paper
NM_014008.5
p.R496C
c.1486C>T
1 paper
NM_014008.5
p.A492G
c.1475C>G
1 paper
NM_014008.5
p.E592K
c.1774G>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."