Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GINS2

GINS2

29 papers

RefSeq Summary

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiat...

Pfam Domains

PSF2_Naa 2–61UCSCPSF2 N-terminal domain

Sld5aa 65–171UCSCGINS complex protein helical bundle domain

Gene Aliases

HGNC Name

GINS complex subunit 2

HGNC Alias Symbols

PSF2; Pfs2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 29 variants

5 papers

chr16:85678631 C>A

NM_016095.3

p.R114L

c.341G>T

Sld5

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=3, hom=0)4 overlapping SVs

2 papers

chr16:85678548 G>T

NM_016095.3

p.H142N

c.424C>A

Sld5

exact variant not in gnomAD4 overlapping SVs

1 paper

chr16:85688898 T>G

NM_016095.3

p.M1L

c.1A>C

exact variant not in gnomAD10 overlapping SVs

1 paper

chr16:85688898 T>TC

NM_016095.3

p.M1insFs

c.1_2insG

exact variant not in gnomAD10 overlapping SVs

1 paper

chr16:85688895 C>A

NM_016095.3

p.D2Y

c.4G>T

PSF2_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr16:85688890 A>C

NM_016095.3

p.A3A

c.9T>G

PSF2_N

Exome: 1.2% (AC=17255, hom=2864)Genome: 11.1% (AC=16957, hom=3090)10 overlapping SVs

1 paper

chr16:85688863 C>T

NM_016095.3

p.K12K

c.36G>A

PSF2_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr16:85688856 C>G

NM_016095.3

p.V15L

c.43G>C

PSF2_N

Exome: 0.0% (AC=7, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr16:85688851 G>C

NM_016095.3

p.T16T

c.48C>G

PSF2_N

exact variant not in gnomAD9 overlapping SVs

1 paper

chr16:85688830 C>T

NM_016095.3

p.L23L

c.69G>A

PSF2_N

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr16:85688828 T>C

NM_016095.3

p.D24G

c.71A>G

PSF2_N

Exome: 0.1% (AC=1679, hom=11)Genome: 0.2% (AC=258, hom=0)9 overlapping SVs

1 paper

chr16:85688822 A>G

NM_016095.3

p.I26T

c.77T>C

PSF2_N

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=7, hom=0)9 overlapping SVs

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."