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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GINS3

Variant:p.E17*

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:58392650 G>T

NM_022770.4

p.E17*

c.49G>T

exact variant not in gnomAD9 overlapping SVs

Surrounding Variants

6 papers

chr16:58392671 G>A

NM_022770.4

p.D24N

c.70G>A

PSF3_N

exact variant not in gnomAD9 overlapping SVs

2 papers

chr16:58392672 A>G

NM_022770.4

p.D24G

c.71A>G

PSF3_N

exact variant not in gnomAD9 overlapping SVs

1 paper

chr16:58392674 A>T

NM_022770.4

p.I25F

c.73A>T

PSF3_N

Exome: 0.0% (AC=73, hom=0)Genome: 0.0% (AC=5, hom=0)9 overlapping SVs

1 paper

chr16:58392623 G>A

NM_022770.4

p.V8M

c.22G>A

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=36, hom=0)9 overlapping SVs

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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."