Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.K50E

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.K50E
c.148A>G
Surrounding Variants
2 papers
NM_015137.6
p.R53Q
c.158G>A
1 paper
NM_015137.6
p.G55C
c.163G>T
1 paper
NM_015137.6
p.D36N
c.106G>A
1 paper
NM_015137.6
p.R70C
c.208C>T
1 paper
NM_015137.6
p.L81L
c.243G>A
1 paper
NM_015137.6
p.F100L
c.298T>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.L118P
c.353T>C
1 paper
NM_015137.6
p.R18C
c.52C>T
1 paper
NM_015137.6
p.R15H
c.44G>A
1 paper
NM_015137.6
p.P14R
c.41C>G
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