Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.C459S

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.C459S
c.1375T>A
Surrounding Variants
1 paper
NM_032018.7
p.C459G
c.1375T>G
1 paper
NM_032018.7
p.C459S
c.1376G>C
1 paper
NM_032018.7
p.C456G
c.1366T>G
1 paper
NM_032018.7
p.L464R
c.1391T>G
3 papers
NM_032018.7
p.D473A
c.1418A>C
1 paper
NM_032018.7
p.T440A
c.1318A>G
4 papers
NM_032018.7
p.T439S
c.1316C>G
4 papers
NM_032018.7
p.T439S
c.1315A>T
1 paper
NM_032018.7
p.K484R
c.1451A>G
2 papers
NM_032018.7
p.K424N
c.1272A>C
2 papers
NM_032018.7
p.K424N
c.1272A>T
2 papers
NM_032018.7
p.K424R
c.1271A>G
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