Varaico: Literature-Extracted Genetic Variants

Gene:ATL3
Variant:p.R412G

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.R412G
c.1234C>G
Surrounding Variants
1 paper
NM_015459.5
p.G406E
c.1217G>A
1 paper
NM_015459.5
p.K400N
c.1200G>T
1 paper
NM_015459.5
p.K400N
c.1200G>C
1 paper
NM_015459.5
p.K399delFs
c.1197delC
1 paper
NM_015459.5
p.D396G
c.1187A>G
1 paper
NM_015459.5
p.E389A
c.1166A>C
1 paper
NM_015459.5
p.A457fs
c.1369_1370fs
1 paper
NM_015459.5
p.L460I
c.1378C>A
1 paper
NM_015459.5
p.C475R
c.1423T>C
1 paper
NM_015459.5
p.M476T
c.1427T>C
1 paper
NM_015459.5
p.G478G
c.1434A>G
1 paper
NM_015459.5
p.Y489C
c.1466A>G
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