Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.I572L

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.I572L
c.1714A>C
Surrounding Variants
1 paper
NM_015137.6
p.D570G
c.1709A>G
1 paper
NM_015137.6
p.E566G
c.1697A>G
1 paper
NM_015137.6
p.I558K
c.1673T>A
1 paper
NM_015137.6
p.I534T
c.1601T>C
1 paper
NM_015137.6
p.R532Q
c.1595G>A
1 paper
NM_015137.6
p.R532W
c.1594C>T
1 paper
NM_015137.6
p.Q528R
c.1583A>G
1 paper
NM_015137.6
p.S581N
c.1742G>A
1 paper
NM_015137.6
p.I584N
c.1751T>A
1 paper
NM_015137.6
p.R594H
c.1781G>A
1 paper
NM_015137.6
p.I625V
c.1873A>G
2 papers
NM_015137.6
p.P637S
c.1909C>T
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