Varaico: Literature-Extracted Genetic Variants

Gene:CCDC22
Variant:p.F301L

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.F301L
c.903C>G
Surrounding Variants
1 paper
NM_014008.5
p.F301L
c.903C>A
1 paper
NM_014008.5
p.F301L
c.901T>C
3 papers
NM_014008.5
p.T300T
c.900C>G
1 paper
NM_014008.5
p.L303_E304Splc
c.909+1G>C
3 papers
NM_014008.5
p.E297D
c.891G>C
3 papers
NM_014008.5
p.E297D
c.891G>T
1 paper
NM_014008.5
p.S296*
c.887C>A
1 paper
NM_014008.5
p.S296*
c.887C>G
3 papers
NM_014008.5
p.R292C
c.874C>T
1 paper
NM_014008.5
p.G286D
c.857G>A
3 papers
NM_014008.5
p.G280V
c.839G>T
3 papers
NM_014008.5
p.Q277L
c.830A>T
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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."