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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATL3

Variant:p.R6*

ATL3

78 papers

RefSeq Summary

This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic ...

Pfam Domains

GBPaa 18–292UCSCGuanylate-binding protein, N-terminal domain

GBP_Caa 294–420UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

atlastin GTPase 3

HGNC Alias Symbol

DKFZP564J0863

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

6 papers

chr11:63671320 G>A

NM_015459.5

p.R6*

c.16C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a34 overlapping SVs

Surrounding Variants

1 paper

chr11:63671319 C>A

NM_015459.5

p.R6L

c.17G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:63671313 G>A

NM_015459.5

p.A8V

c.23C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:63671305 C>A

NM_015459.5

p.A11S

c.31G>T

Exome: 0.0% (AC=165, hom=1)Genome: 0.0% (AC=12, hom=0)34 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."