Varaico: Literature-Extracted Genetic Variants

Gene:ATL3
Variant:p.N94D

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
Selected Variant
1 paper
NM_015459.5
p.N94D
c.280A>G
Surrounding Variants
1 paper
NM_015459.5
p.L103F
c.309A>T
1 paper
NM_015459.5
p.R109S
c.327A>T
1 paper
NM_015459.5
p.W122C
c.366G>T
1 paper
NM_015459.5
p.W122C
c.366G>C
1 paper
NM_001290048.2
p.E106delFs
c.316_317delTC
1 paper
NM_001290048.2
p.K112delFs
c.334_335delTT
1 paper
NM_015459.5
p.H54L
c.161A>T
1 paper
NM_015459.5
p.V139A
c.416T>C
1 paper
NM_015459.5
p.V139D
c.416T>A
1 paper
NM_015459.5
p.I159V
c.475A>G
1 paper
NM_015459.5
p.A161T
c.481G>A
2 papers
NM_015459.5
p.L162V
c.484C>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."