Varaico: Literature-Extracted Genetic Variants

Gene:SIVA1

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
1–12 of 30 variants
2 papers
NM_006427.4
p.Y34F
c.101A>T
2 papers
NM_006427.4
p.A50T
c.148G>A
2 papers
NM_006427.4
p.Y53F
c.158A>T
1 paper
NM_006427.4
p.S5C
c.13A>T
1 paper
NM_006427.4
p.A9T
c.25G>A
1 paper
NM_006427.4
p.A52D
c.155C>A
1 paper
NM_006427.4
p.W58fs
c.172_173fs
1 paper
NM_006427.4
p.W58delFs
c.173delG
1 paper
NM_006427.4
p.A82V
c.245C>T
1 paper
NM_006427.4
p.A101V
c.302C>T
1 paper
NM_006427.4
p.V121M
c.361G>A
1 paper
NM_006427.4
p.C127_G128ins1
c.381_382insATC
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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."