Varaico: Literature-Extracted Genetic Variants

Gene:SIVA1
Variant:p.C127_G128ins1

SIVA1

18 papers

RefSeq Summary

This gene encodes an E3 ubiquitin ligase that regulates cell cycle progression, cell proliferation and apoptosis. The N-terminus of this protein binds to the cytoplasmic tail of the CD27 antigen, a me...

Pfam Domains

Sivaaa 1–175UCSCCd27 binding protein (Siva)

Gene Aliases

HGNC Name

SIVA1 apoptosis inducing factor

HGNC Alias Symbols

Siva-1; Siva-2; CD27BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006427.4
p.C127_G128ins1
c.381_382insATC
Surrounding Variants
1 paper
NM_006427.4
p.R132L
c.395G>T
1 paper
NM_006427.4
p.V121M
c.361G>A
1 paper
NM_006427.4
p.L134L
c.402G>A
1 paper
NM_006427.4
p.G146S
c.436G>A
1 paper
NM_006427.4
p.V148M
c.442G>A
1 paper
NM_006427.4
p.C150R
c.448T>C
1 paper
NM_006427.4
p.C150Y
c.449G>A
1 paper
NM_006427.4
p.T151T
c.453C>T
1 paper
NM_006427.4
p.L152L
c.456G>A
1 paper
NM_006427.4
p.C153R
c.457T>C
1 paper
NM_006427.4
p.C153Y
c.458G>A
1 paper
NM_006427.4
p.C153F
c.458G>T
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