Varaico: Literature-Extracted Genetic Variants

Gene:SP110
Variant:p.M523T

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
6 papers
NM_080424.4
p.M523T
c.1568T>C
Surrounding Variants
1 paper
NM_080424.4
p.R519C
c.1555C>T
1 paper
NM_080424.4
p.R516Q
c.1547G>A
1 paper
NM_080424.4
p.F502L
c.1506T>G
1 paper
NM_080424.4
p.F502L
c.1506T>A
1 paper
NM_080424.4
p.F502L
c.1504T>C
3 papers
NM_080424.4
p.G483R
c.1447G>C
3 papers
NM_080424.4
p.G483R
c.1447G>A
1 paper
NM_080424.4
p.G483Splc
c.1448-6T>G
1 paper
NM_080424.4
p.G483R
c.1447G>A
1 paper
NM_080424.4
p.Y476C
c.1427A>G
1 paper
NM_080424.4
p.I474S
c.1421T>G
1 paper
NM_080424.4
p.V466fs
c.1396_1397fs
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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."