Varaico: Literature-Extracted Genetic Variants

Gene:UVSSA
Variant:p.C32R

UVSSA

129 papers

RefSeq Summary

The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with severa...

Pfam Domains

UVSSA_Naa 1–142UCSCUVSSA N-terminal domain
DUF2043aa 497–603UCSCUncharacterized conserved protein (DUF2043)

Gene Aliases

HGNC Name

UV stimulated scaffold protein A

HGNC Previous Symbol

KIAA1530

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_020894.4
p.C32R
c.94T>C
Surrounding Variants
1 paper
NM_020894.4
p.I31I
c.93T>A
5 papers
NM_020894.4
p.I31fs
c.91_92fs
1 paper
NM_020894.4
p.K33R
c.98A>G
1 paper
NM_020894.4
p.K29R
c.86A>G
4 papers
NM_020894.4
p.K29delFs
c.87delG
1 paper
NM_020894.4
p.P22S
c.64C>T
3 papers
NM_020894.4
p.R19*
c.55C>T
1 paper
NM_020894.4
p.P18T
c.52C>A
1 paper
NM_020894.4
p.E17_P18insFs
c.51_52ins31
1 paper
NM_020894.4
p.G16V
c.47G>T
1 paper
NM_020894.4
p.E17delFs
c.49_50delGA
2 papers
NM_020894.4
p.E10A
c.29A>C
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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."