Varaico: Literature-Extracted Genetic Variants

Gene:ATL3
Variant:p.I253T

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.I253T
c.758T>C
Surrounding Variants
1 paper
NM_015459.5
p.C256Y
c.767G>A
1 paper
NM_015459.5
p.N248S
c.743A>G
1 paper
NM_015459.5
p.P266L
c.797C>T
1 paper
NM_015459.5
p.G227R
c.679G>C
1 paper
NM_015459.5
p.G227R
c.679G>A
1 paper
NM_015459.5
p.Y221C
c.662A>G
1 paper
NM_015459.5
p.E199A
c.596A>C
1 paper
NM_015459.5
p.D198E
c.594T>G
1 paper
NM_015459.5
p.D198E
c.594T>A
1 paper
NM_015459.5
p.M197I
c.591G>T
17 papers
NM_015459.5
p.Y192C
c.575A>G
1 paper
NM_015459.5
p.I285T
c.854T>C
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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."