Varaico: Literature-Extracted Genetic Variants

Gene:ATL3

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
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
17 papers
NM_015459.5
p.Y192C
c.575A>G
13 papers
NM_015459.5
p.P338R
c.1013C>G
6 papers
NM_015459.5
p.R6*
c.16C>T
2 papers
NM_015459.5
p.L162V
c.484C>G
2 papers
NM_015459.5
p.E335D
c.1005A>T
2 papers
NM_015459.5
p.E335D
c.1005A>C
2 papers
NM_015459.5
p.G519S
c.1555G>A
1 paper
NM_015459.5
p.R6L
c.17G>T
1 paper
NM_015459.5
p.A8V
c.23C>T
1 paper
NM_015459.5
p.A11S
c.31G>T
1 paper
NM_015459.5
p.H54L
c.161A>T
1 paper
NM_015459.5
p.N94D
c.280A>G
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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."