Varaico: Literature-Extracted Genetic Variants

Gene:SP110
Variant:p.I27L

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
4 papers
NM_080424.4
p.I27L
c.79A>T
Surrounding Variants
4 papers
NM_080424.4
p.I27L
c.79A>C
4 papers
NM_080424.4
p.A26_I27delins
c.78_79delinsAT
1 paper
NM_080424.4
p.I27T
c.80T>C
1 paper
NM_080424.4
p.I27Fs
c.79delinsATFs
1 paper
NM_080424.4
p.K29M
c.86A>T
1 paper
NM_080424.4
p.G22V
c.65G>T
1 paper
NM_080424.4
p.Q19*
c.55C>T
1 paper
NM_080424.4
p.Q14fs
c.40_41fs
4 papers
NM_080424.4
p.Q14delFs
c.40delG
1 paper
NM_080424.4
p.L12V
c.34C>G
1 paper
NM_080424.4
p.I43V
c.127A>G
2 papers
NM_080424.4
p.M8T
c.23T>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."