Varaico: Literature-Extracted Genetic Variants

Gene:GINS3
Variant:p.H125R

GINS3

17 papers

RefSeq Summary

This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transc...

Pfam Domains

PSF3_Naa 20–78UCSCPSF3 N-terminal domain
Sld5aa 91–191UCSCGINS complex protein helical bundle domain

Gene Aliases

HGNC Name

GINS complex subunit 3

HGNC Alias Symbols

FLJ13912; PSF3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022770.4
p.H125R
c.374A>G
Surrounding Variants
1 paper
NM_022770.4
p.S135S
c.405C>T
1 paper
NM_022770.4
p.L139fs
c.415_416fs
1 paper
NM_022770.4
p.L139_Q140insFs
c.417_418ins7
1 paper
NM_022770.4
p.Q140_T141Splc
c.420+1G>A
2 papers
NM_022770.4
p.R82Q
c.245G>A
1 paper
NM_022770.4
p.Q62_G63Splc
c.187-7G>T
1 paper
NM_022770.4
p.E172D
c.516G>C
1 paper
NM_022770.4
p.E172D
c.516G>T
1 paper
NM_022770.4
p.Q177delFs
c.531delA
1 paper
NM_022770.4
p.T178_G179insFs
c.534_535ins7
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."