Varaico: Literature-Extracted Genetic Variants

Gene:CABS1
Variant:p.E222D

CABS1

29 papers

Pfam Domains

CABS1aa 1–395UCSCCalcium-binding and spermatid-specific protein 1

Gene Aliases

HGNC Name

calcium binding protein, spermatid associated 1

HGNC Previous Symbol

C4orf35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033122.4
p.E222D
c.666A>T
Surrounding Variants
1 paper
NM_033122.4
p.E222D
c.666A>C
1 paper
NM_033122.4
p.P221ins1
c.662_663insTGA
1 paper
NM_033122.4
p.P221ins4
c.662_663ins12
1 paper
NM_033122.4
p.A220V
c.659C>T
1 paper
NM_033122.4
p.D230delins
c.688_690delinsTGA
1 paper
NM_033122.4
p.E235Q
c.703G>C
2 papers
NM_033122.4
p.E241K
c.721G>A
1 paper
NM_033122.4
p.D243N
c.727G>A
1 paper
NM_033122.4
p.S193F
c.578C>T
1 paper
NM_033122.4
p.R181H
c.542G>A
1 paper
NM_033122.4
p.F268F
c.804T>C
2 papers
NM_033122.4
p.D168E
c.504C>A
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