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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GOLPH3L

Variant:p.Q216H

GOLPH3L

21 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 localized at the Golgi stack and may have a ...

Pfam Domains

GPP34aa 48–277UCSCGolgi phosphoprotein 3 (GPP34)

Gene Aliases

HGNC Name

golgi phosphoprotein 3 like

HGNC Alias Symbol

GPP34R

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr1:150648531 C>G

NM_018178.6

p.Q216H

c.648G>C

GPP34

Exome: 0.0% (AC=441, hom=3)Genome: 0.0% (AC=51, hom=1)242 overlapping SVs

Surrounding Variants

3 papers

chr1:150648531 C>A

NM_018178.6

p.Q216H

c.648G>T

GPP34

exact variant not in gnomAD242 overlapping SVs

1 paper

chr1:150648517 C>A

NM_018178.6

p.R221L

c.662G>T

GPP34

exact variant not in gnomAD242 overlapping SVs

1 paper

chr1:150648550 C>T

NM_018178.6

p.R210Q

c.629G>A

GPP34

Exome: 0.0% (AC=16, hom=1)Genome: 0.0% (AC=1, hom=0)242 overlapping SVs

1 paper

chr1:150648506 G>A

NM_018178.6

p.L225F

c.673C>T

GPP34

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)242 overlapping SVs

1 paper

chr1:150648689 C>T

NM_018178.6

p.A164T

c.490G>A

GPP34

Exome: 0.0% (AC=531, hom=1)Genome: 0.0% (AC=62, hom=0)242 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."