Varaico: Literature-Extracted Genetic Variants

Gene:SP110
Variant:p.L425S

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.L425S
c.1274T>C
Surrounding Variants
2 papers
NM_080424.4
p.C419Y
c.1256G>A
1 paper
NM_080424.4
p.D400D
c.1200C>T
1 paper
NM_080424.4
p.V395delFs
c.1183delC
1 paper
NM_080424.4
p.V391V
c.1173G>A
1 paper
NM_080424.4
p.L389F
c.1165C>T
1 paper
NM_080424.4
p.P381T
c.1141C>A
1 paper
NM_080424.4
p.I434T
c.1301T>C
1 paper
NM_080424.4
p.K439E
c.1315A>G
1 paper
NM_080424.4
p.G450R
c.1348G>A
1 paper
NM_080424.4
p.G450E
c.1349G>A
1 paper
NM_080424.4
p.D455Y
c.1363G>T
1 paper
NM_080424.4
p.H460P
c.1379A>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."