Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.E37D

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
1 paper
NM_032018.7
p.E37D
c.111G>T
Surrounding Variants
1 paper
NM_032018.7
p.E37D
c.111G>C
1 paper
NM_032018.7
p.L38S
c.113T>C
1 paper
NM_032018.7
p.W36G
c.106T>G
1 paper
NM_032018.7
p.P41S
c.121C>T
1 paper
NM_032018.7
p.D44E
c.132C>A
2 papers
NM_032018.7
p.L48delFs
c.142_143delCT
2 papers
NM_032018.7
p.L48fs
c.142_143fs
1 paper
NM_032018.7
p.D23Y
c.67G>T
1 paper
NM_032018.7
p.Q18*
c.52C>T
1 paper
NM_032018.7
p.F57S
c.170T>C
1 paper
NM_032018.7
p.W58G
c.172T>G
1 paper
NM_032018.7
p.N16T
c.47A>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."