Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.Q369*

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.Q369*
c.1105C>T
Surrounding Variants
1 paper
NM_032018.7
p.S373A
c.1117T>G
1 paper
NM_032018.7
p.S374A
c.1120T>G
1 paper
NM_032018.7
p.S363A
c.1087T>G
1 paper
NM_032018.7
p.S383A
c.1147T>G
1 paper
NM_032018.7
p.S353N
c.1058G>A
1 paper
NM_032018.7
p.R351G
c.1051A>G
1 paper
NM_032018.7
p.T415_V416delFs
c.1245_1246delTG
1 paper
NM_032018.7
p.V416delFs
c.1247delT
1 paper
NM_032018.7
p.V416fs
c.1246_1247fs
1 paper
NM_032018.7
p.N419fs
c.1255_1256fs
1 paper
NM_032018.7
p.A319P
c.955G>C
1 paper
NM_032018.7
p.F420I
c.1258T>A
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