Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.I197M

EFR3A

59 papers

RefSeq Summary

The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a pe...

Pfam Domains

EFR3_ARMaa 48–144UCSCEFR3, armadillo repeat

Gene Aliases

HGNC Name

EFR3 homolog A

HGNC Alias Symbol

KIAA0143

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015137.6
p.I197M
c.591T>G
Surrounding Variants
1 paper
NM_015137.6
p.M194I
c.582G>A
1 paper
NM_015137.6
p.M194I
c.582G>C
1 paper
NM_015137.6
p.M194I
c.582G>T
1 paper
NM_015137.6
p.M194V
c.580A>G
1 paper
NM_015137.6
p.Q192H
c.576G>C
1 paper
NM_015137.6
p.Q192H
c.576G>T
1 paper
NM_015137.6
p.R185W
c.553C>T
1 paper
NM_015137.6
p.N181K
c.543C>A
1 paper
NM_015137.6
p.N181K
c.543C>G
1 paper
NM_015137.6
p.V180G
c.539T>G
1 paper
NM_015137.6
p.R214L
c.641G>T
1 paper
NM_015137.6
p.G216fs
c.646_647fs
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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."