Varaico: Literature-Extracted Genetic Variants

Gene:CCDC22
Variant:p.R469M

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
3 papers
NM_014008.5
p.R469M
c.1406G>T
Surrounding Variants
3 papers
NM_014008.5
p.R469K
c.1406G>A
1 paper
NM_014008.5
p.A463G
c.1388C>G
1 paper
NM_014008.5
p.R449Q
c.1346G>A
3 papers
NM_014008.5
p.D487A
c.1460A>C
1 paper
NM_014008.5
p.D487G
c.1460A>G
3 papers
NM_014008.5
p.V488M
c.1462G>A
1 paper
NM_014008.5
p.S489Y
c.1466C>A
1 paper
NM_014008.5
p.R490W
c.1468C>T
1 paper
NM_014008.5
p.A492G
c.1475C>G
1 paper
NM_014008.5
p.R496C
c.1486C>T
1 paper
NM_014008.5
p.R442G
c.1324A>G
3 papers
NM_014008.5
p.R436Q
c.1307G>A
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