Varaico: Literature-Extracted Genetic Variants

Gene:CCDC148

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
1–12 of 44 variants
3 papers
NM_138803.4
p.K329R
c.986A>G
2 papers
NM_138803.4
p.S148L
c.443C>T
2 papers
NM_138803.4
p.Y221*
c.663C>G
2 papers
NM_138803.4
p.Y221*
c.663C>A
2 papers
NM_138803.4
p.R411G
c.1231A>G
1 paper
NM_138803.4
p.K16*
c.46A>T
1 paper
NM_138803.4
p.K25*
c.73A>T
1 paper
NM_138803.4
p.V27A
c.80T>C
1 paper
NM_138803.4
p.R33H
c.98G>A
1 paper
NM_138803.4
p.A46T
c.136G>A
1 paper
NM_138803.4
p.W73R
c.217T>C
1 paper
NM_138803.4
p.W73R
c.217T>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."