Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.N365D

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
3 papers
NM_015137.6
p.N365D
c.1093A>G
Surrounding Variants
1 paper
NM_015137.6
p.V364A
c.1091T>C
1 paper
NM_015137.6
p.N354D
c.1060A>G
1 paper
NM_015137.6
p.V349I
c.1045G>A
1 paper
NM_015137.6
p.I382V
c.1144A>G
1 paper
NM_015137.6
p.L347R
c.1040T>G
1 paper
NM_015137.6
p.Q384E
c.1150C>G
1 paper
NM_015137.6
p.T340I
c.1019C>T
2 papers
NM_015137.6
p.F338S
c.1013T>C
1 paper
NM_015137.6
p.V337L
c.1009G>C
1 paper
NM_015137.6
p.G331Splc
c.991+5G>A
1 paper
NM_015137.6
p.A321S
c.961G>T
1 paper
NM_015137.6
p.E320D
c.960G>C
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