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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GORASP1

Variant:p.F17S

GORASP1

211 papers

RefSeq Summary

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing ...

Pfam Domains

GRASP55_65aa 1–92UCSCGRASP55/65 PDZ-like domain

GRASP55_65aa 69–205UCSCGRASP55/65 PDZ-like domain

Gene Aliases

HGNC Name

golgi reassembly stacking protein 1

HGNC Previous Symbol

GOLPH5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:39107492 A>G

NM_031899.4

p.F17S

c.50T>C

GRASP55_65

Exome: 0.0% (AC=1, hom=0)Genome: n/a60 overlapping SVs

Surrounding Variants

1 paper

chr3:39107499 C>T

NM_031899.4

p.E15K

c.43G>A

GRASP55_65

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)60 overlapping SVs

2 papers

chr3:39107504 C>T

NM_031899.4

p.G13D

c.38G>A

GRASP55_65

Exome: 0.1% (AC=767, hom=8)Genome: 0.5% (AC=747, hom=11)60 overlapping SVs

1 paper

chr3:39107505 C>T

NM_031899.4

p.G13S

c.37G>A

GRASP55_65

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=7, hom=0)60 overlapping SVs

1 paper

chr3:39107506 G>T

NM_031899.4

p.G12G

c.36C>A

GRASP55_65

Exome: 0.0% (AC=1, hom=0)Genome: n/a60 overlapping SVs

3 papers

chr3:39107507 C>A

NM_031899.4

p.G12V

c.35G>T

GRASP55_65

Exome: 0.0% (AC=0, hom=0)Genome: n/a60 overlapping SVs

2 papers

chr3:39107507 C>G

NM_031899.4

p.G12A

c.35G>C

GRASP55_65

exact variant not in gnomAD60 overlapping SVs

4 papers

chr3:39107507 C>T

NM_031899.4

p.G12D

c.35G>A

GRASP55_65

Exome: 0.0% (AC=1, hom=0)Genome: n/a60 overlapping SVs

1 paper

chr3:39107508 C>A

NM_031899.4

p.G12C

c.34G>T

GRASP55_65

Exome: 0.0% (AC=9, hom=0)Genome: n/a60 overlapping SVs

1 paper

chr3:39107508 C>T

NM_031899.4

p.G12S

c.34G>A

GRASP55_65

exact variant not in gnomAD60 overlapping SVs

1 paper

chr3:39107510 G>T

NM_031899.4

p.A11E

c.32C>A

GRASP55_65

Exome: 0.0% (AC=0, hom=0)Genome: n/a60 overlapping SVs

1 paper

chr3:39107517 G>A

NM_031899.4

p.Q9*

c.25C>T

GRASP55_65

Exome: 0.0% (AC=1, hom=0)Genome: n/a60 overlapping SVs

1 paper

chr3:39107523 C>T

NM_031899.4

p.A7T

c.19G>A

GRASP55_65

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)60 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."