Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GORASP1

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

1–12 of 107 variants

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

4 papers

chr3:39098861 C>A

NM_031899.4

p.D317Y

c.949G>T

Exome: 1.0% (AC=14721, hom=104)Genome: 0.7% (AC=1007, hom=4)59 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

3 papers

chr3:39103525 G>A

NM_031899.4

p.A31V

c.92C>T

GRASP55_65

Exome: 0.6% (AC=8526, hom=41)Genome: 0.4% (AC=617, hom=3)60 overlapping SVs

3 papers

chr3:39101071 G>A

NM_031899.4

p.A127V

c.380C>T

GRASP55_65

Exome: 0.6% (AC=8436, hom=35)Genome: 0.4% (AC=661, hom=2)62 overlapping SVs

3 papers

chr3:39100804 G>A

NM_031899.4

p.S170L

c.509C>T

GRASP55_65

Exome: 0.0% (AC=1, 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

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

2 papers

chr3:39102851 G>C

NM_031899.4

p.L59V

c.175C>G

GRASP55_65

exact variant not in gnomAD60 overlapping SVs

2 papers

chr3:39102751 C>T

NM_031899.4

p.G92D

c.275G>A

GRASP55_65

exact variant not in gnomAD60 overlapping SVs

2 papers

chr3:39101068 C>T

NM_031899.4

p.G128D

c.383G>A

GRASP55_65

exact variant not in gnomAD62 overlapping SVs

2 papers

chr3:39101017 T>G

NM_031899.4

p.E145A

c.434A>C

GRASP55_65

exact variant not in gnomAD62 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."