Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.E107Q

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
2 papers
NM_032018.7
p.E107Q
c.319G>C
Surrounding Variants
1 paper
NM_032018.7
p.K103N
c.309G>C
1 paper
NM_032018.7
p.K103N
c.309G>T
1 paper
NM_032018.7
p.L99*
c.296T>A
1 paper
NM_032018.7
p.L99S
c.296T>C
1 paper
NM_032018.7
p.L96fs
c.286_287fs
1 paper
NM_032018.7
p.C88S
c.262T>A
1 paper
NM_032018.7
p.G83_K84delins
c.249_250delinsTT
1 paper
NM_032018.7
p.L74L
c.222G>A
1 paper
NM_032018.7
p.L74V
c.220C>G
1 paper
NM_032018.7
p.K67E
c.199A>G
1 paper
NM_032018.7
p.W58G
c.172T>G
1 paper
NM_032018.7
p.F57S
c.170T>C
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