Varaico: Literature-Extracted Genetic Variants

GINS1

36 papers

RefSeq Summary

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the ini...

Pfam Domains

Sld5aa 29–120UCSCGINS complex protein helical bundle domain

Sld5aa 29–129UCSCGINS complex protein helical bundle domain

PSF1_Caa 144–196UCSCPSF1 C-terminal domain

Gene Aliases

HGNC Name

GINS complex subunit 1

HGNC Alias Symbols

KIAA0186; PSF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021067.5

p.L21L

c.63G>T

Surrounding Variants

4 papers

NM_021067.5

p.Q20Q

c.60A>G

1 paper

NM_021067.5

p.E18K

c.52G>A

1 paper

NM_021067.5

p.M1I

c.3G>A

1 paper

NM_021067.5

p.M1L

c.1A>T

1 paper

NM_021067.5

p.E35G

c.104A>G

1 paper

NM_021067.5

p.V47M

c.139G>A

1 paper

NM_021067.5

p.K51K

c.153G>A

2 papers

NM_021067.5

p.R73Q

c.218G>A

1 paper

NM_021067.5

p.T76I

c.227C>T

1 paper

NM_021067.5

p.V77L

c.229G>C

1 paper

NM_021067.5

p.V77L

c.229G>T