Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.K211E

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.K211E
c.631A>G
Surrounding Variants
1 paper
NM_032018.7
p.H201delFs
c.603delC
1 paper
NM_032018.7
p.G222fs
c.664_665fs
1 paper
NM_032018.7
p.W198L
c.593G>T
1 paper
NM_032018.7
p.G224E
c.671G>A
1 paper
NM_032018.7
p.K230Q
c.688A>C
2 papers
NM_032018.7
p.K230R
c.689A>G
1 paper
NM_032018.7
p.E231*
c.691G>T
1 paper
NM_032018.7
p.R185P
c.554G>C
1 paper
NM_032018.7
p.R185*
c.553C>T
1 paper
NM_032018.7
p.E237Q
c.709G>C
1 paper
NM_032018.7
p.R168C
c.502C>T
1 paper
NM_032018.7
p.V159A
c.476T>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."