Varaico: Literature-Extracted Genetic Variants

Gene:SP110
Variant:p.S114R

SP110

131 papers

RefSeq Summary

The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyt...

Pfam Domains

HSRaa 8–106UCSCHSR domain
SANDaa 458–534UCSCSAND domain

Gene Aliases

HGNC Name

SP110 nuclear body protein

HGNC Previous Symbols

IFI41; IFI75

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080424.4
p.S114R
c.342C>A
Surrounding Variants
1 paper
NM_080424.4
p.S114R
c.342C>G
1 paper
NM_080424.4
p.S114fs
c.340_341fs
1 paper
NM_080424.4
p.S114R
c.340A>C
1 paper
NM_080424.4
p.W112*
c.336G>A
1 paper
NM_080424.4
p.W112*
c.335G>A
6 papers
NM_080424.4
p.W112R
c.334T>C
6 papers
NM_080424.4
p.W112R
c.334T>A
1 paper
NM_080424.4
p.S109fs
c.325_326fs
3 papers
NM_080424.4
p.G107_S109insFs
c.319_325dup7
1 paper
NM_080424.4
p.S109fs
c.325_326fs
2 papers
NM_080424.4
p.T125fs
c.373_374fs
3 papers
NM_080424.4
p.T125delFs
c.373delT
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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."