Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.F123L

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
1 paper
NM_015137.6
p.F123L
c.369T>A
Surrounding Variants
1 paper
NM_015137.6
p.F123L
c.369T>G
1 paper
NM_015137.6
p.F123L
c.367T>C
1 paper
NM_015137.6
p.Y136D
c.406T>G
1 paper
NM_015137.6
p.V144G
c.431T>G
1 paper
NM_015137.6
p.R161*
c.481C>T
1 paper
NM_015137.6
p.L118P
c.353T>C
1 paper
NM_015137.6
p.F100L
c.300T>A
1 paper
NM_015137.6
p.F100L
c.300T>G
1 paper
NM_015137.6
p.F100L
c.298T>C
1 paper
NM_015137.6
p.L81L
c.243G>A
1 paper
NM_015137.6
p.V180G
c.539T>G
1 paper
NM_015137.6
p.N181K
c.543C>A
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