Varaico: Literature-Extracted Genetic Variants

Gene:SP110

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
1–12 of 174 variants
9 papers
NM_080424.4
p.P214delFs
c.642delG
7 papers
NM_080424.4
p.A206V
c.617C>T
7 papers
NM_080424.4
p.E207K
c.619G>A
7 papers
NM_080424.4
p.L425S
c.1274T>C
6 papers
NM_080424.4
p.W112R
c.334T>C
6 papers
NM_080424.4
p.W112R
c.334T>A
6 papers
NM_080424.4
p.A128V
c.383C>T
6 papers
NM_080424.4
p.M523T
c.1568T>C
4 papers
NM_080424.4
p.Q14delFs
c.40delG
4 papers
NM_080424.4
p.I27L
c.79A>T
4 papers
NM_080424.4
p.I27L
c.79A>C
4 papers
NM_080424.4
p.A26_I27delins
c.78_79delinsAT
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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."