Varaico: Literature-Extracted Genetic Variants

Gene:CCDC122
Variant:p.V30G

CCDC122

22 papers

RefSeq Summary

This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017].

Pfam Domains

CCDC122aa 52–262UCSCCoiled-coil domain-containing protein 122

Gene Aliases

HGNC Name

coiled-coil domain containing 122

HGNC Alias Symbol

FLJ31846

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144974.5
p.V30G
c.89T>G
Surrounding Variants
1 paper
NM_144974.5
p.D25N
c.73G>A
1 paper
NM_144974.5
p.S21N
c.62G>A
1 paper
NM_144974.5
p.E42K
c.124G>A
1 paper
NM_144974.5
p.E73delFs
c.219delT
1 paper
NM_144974.5
p.S99F
c.296C>T
1 paper
NM_144974.5
p.V105I
c.313G>A
1 paper
NM_144974.5
p.E112E
c.336A>G
1 paper
NM_144974.5
p.Q115L
c.344A>T
1 paper
NM_144974.5
p.E120K
c.358G>A
1 paper
NM_144974.5
p.M122L
c.364A>T
2 papers
NM_144974.5
p.M122L
c.364A>C
1 paper
NM_144974.5
p.S201C
c.602C>G
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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."