Varaico: Literature-Extracted Genetic Variants

Gene:SP110
Variant:p.A206V

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
7 papers
NM_080424.4
p.A206V
c.617C>T
Surrounding Variants
1 paper
NM_080424.4
p.A206A
c.618G>A
7 papers
NM_080424.4
p.E207K
c.619G>A
1 paper
NM_080424.4
p.K199_L200del1
c.597_599delAAC
9 papers
NM_080424.4
p.P214delFs
c.642delG
2 papers
NM_080424.4
p.S215fs
c.643_644fs
1 paper
NM_080424.4
p.V195Splc
c.584-10C>G
1 paper
NM_080424.4
p.P184S
c.550C>T
1 paper
NM_080424.4
p.P182S
c.544C>T
1 paper
NM_080424.4
p.L181R
c.542T>G
1 paper
NM_080424.4
p.P174A
c.520C>G
1 paper
NM_080424.4
p.S173L
c.518C>T
1 paper
NM_080424.4
p.E168delFs
c.504delC
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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."