Varaico: Literature-Extracted Genetic Variants

Gene:CCDC148
Variant:p.K330Q

CCDC148

41 papers

Pfam Domains

CCDC148aa 221–457UCSCCCDC148 coiled-coil domain

Gene Aliases

HGNC Name

coiled-coil domain containing 148

HGNC Alias Symbol

MGC125588

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138803.4
p.K330Q
c.988A>C
Surrounding Variants
3 papers
NM_138803.4
p.K329R
c.986A>G
1 paper
NM_138803.4
p.M349K
c.1046T>A
1 paper
NM_138803.4
p.Y307F
c.920A>T
1 paper
NM_138803.4
p.M288K
c.863T>A
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