Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A

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
1–12 of 107 variants
3 papers
NM_015137.6
p.N365D
c.1093A>G
3 papers
NM_015137.6
p.I786V
c.2356A>G
2 papers
NM_015137.6
p.R4Splc
c.11-1G>T
2 papers
NM_015137.6
p.K50E
c.148A>G
2 papers
NM_015137.6
p.R53Q
c.158G>A
2 papers
NM_015137.6
p.I197M
c.591T>G
2 papers
NM_015137.6
p.F338S
c.1013T>C
2 papers
NM_015137.6
p.G390E
c.1169G>A
2 papers
NM_015137.6
p.P637S
c.1909C>T
2 papers
NM_015137.6
p.K732E
c.2194A>G
2 papers
NM_015137.6
p.R749C
c.2245C>T
2 papers
NM_015137.6
p.K770E
c.2308A>G
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