Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.K424N

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.K424N
c.1272A>T
Surrounding Variants
2 papers
NM_032018.7
p.K424N
c.1272A>C
2 papers
NM_032018.7
p.K424R
c.1271A>G
1 paper
NM_032018.7
p.F420I
c.1258T>A
1 paper
NM_032018.7
p.N419fs
c.1255_1256fs
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.T415_V416delFs
c.1245_1246delTG
4 papers
NM_032018.7
p.T439S
c.1315A>T
4 papers
NM_032018.7
p.T439S
c.1316C>G
1 paper
NM_032018.7
p.T440A
c.1318A>G
1 paper
NM_032018.7
p.C456G
c.1366T>G
1 paper
NM_032018.7
p.C459S
c.1375T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."