Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.E112Q

SPRTN

90 papers

RefSeq Summary

The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may p...

Pfam Domains

SprT-likeaa 45–153UCSCSprT-like family
SPRTN_ZBDaa 164–211UCSCSpartan-like zinc binding domain

Gene Aliases

HGNC Name

SprT-like N-terminal domain

HGNC Previous Symbol

C1orf124

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_032018.7
p.E112Q
c.334G>C
Surrounding Variants
12 papers
NM_032018.7
p.E112A
c.335A>C
1 paper
NM_032018.7
p.H115delFs
c.343delC
11 papers
NM_032018.7
p.Y117C
c.350A>G
2 papers
NM_032018.7
p.K125N
c.375A>C
2 papers
NM_032018.7
p.K125N
c.375A>T
1 paper
NM_032018.7
p.R127*
c.379C>T
1 paper
NM_032018.7
p.R127R
c.381A>T
1 paper
NM_032018.7
p.F134delFs
c.400delT
1 paper
NM_032018.7
p.R140C
c.418C>T
2 papers
NM_032018.7
p.N142_S143del2
c.424_428del6
1 paper
NM_032018.7
p.Y152*
c.456C>A
1 paper
NM_032018.7
p.Y152*
c.456C>G
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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."