Varaico: Literature-Extracted Genetic Variants

Gene:CCDC148
Variant:p.W73R

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.W73R
c.217T>A
Surrounding Variants
1 paper
NM_138803.4
p.W73R
c.217T>C
1 paper
NM_138803.4
p.Q75R
c.224A>G
1 paper
NM_138803.4
p.R84Splc
c.251+1892G>A
1 paper
NM_138803.4
p.D107Y
c.319G>T
1 paper
NM_138803.4
p.I127insFs
c.379dupA
1 paper
NM_138803.4
p.H143R
c.428A>G
2 papers
NM_138803.4
p.S148L
c.443C>T
1 paper
NM_138803.4
p.M157V
c.469A>G
1 paper
NM_138803.4
p.V159I
c.475G>A
1 paper
NM_138803.4
p.I184L
c.550A>C
1 paper
NM_138803.4
p.I195T
c.584T>C
1 paper
NM_138803.4
p.Y221F
c.662A>T
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