Varaico: Literature-Extracted Genetic Variants

Gene:CCDC22
Variant:p.E378D

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.E378D
c.1134G>C
Surrounding Variants
1 paper
NM_014008.5
p.E378D
c.1134G>T
3 papers
NM_014008.5
p.E378*
c.1132G>T
1 paper
NM_014008.5
p.R384S
c.1150C>A
3 papers
NM_014008.5
p.R384C
c.1150C>T
1 paper
NM_014008.5
p.A389T
c.1165G>A
3 papers
NM_014008.5
p.A389E
c.1166C>A
1 paper
NM_014008.5
p.V390A
c.1169T>C
3 papers
NM_014008.5
p.N399K
c.1197C>A
3 papers
NM_014008.5
p.V406L
c.1216G>T
3 papers
NM_014008.5
p.A411D
c.1232C>A
3 papers
NM_014008.5
p.R425W
c.1273C>T
1 paper
NM_014008.5
p.A430T
c.1288G>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."