Varaico: Literature-Extracted Genetic Variants

Gene:ATL3
Variant:p.E335D

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
2 papers
NM_015459.5
p.E335D
c.1005A>T
Surrounding Variants
2 papers
NM_015459.5
p.E335D
c.1005A>C
1 paper
NM_001290048.2
p.G316_E317del1
c.947_949delCTC
1 paper
NM_001290048.2
p.G316_E317del2
c.946_950del6
1 paper
NM_015459.5
p.G334A
c.1001G>C
1 paper
NM_015459.5
p.Q333R
c.998A>G
13 papers
NM_015459.5
p.P338R
c.1013C>G
1 paper
NM_015459.5
p.M343V
c.1027A>G
1 paper
NM_015459.5
p.A327T
c.979G>A
1 paper
NM_015459.5
p.G320A
c.959G>C
1 paper
NM_015459.5
p.R319Q
c.956G>A
1 paper
NM_015459.5
p.N312S
c.935A>G
1 paper
NM_015459.5
p.L301S
c.902T>C
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