Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.M646Splc

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.M646Splc
c.1938-12T>G
Surrounding Variants
1 paper
NM_015137.6
p.L658_F660del3
c.1972_1979del9
1 paper
NM_015137.6
p.S675R
c.2023A>C
1 paper
NM_015137.6
p.S675R
c.2025T>A
1 paper
NM_015137.6
p.S675R
c.2025T>G
1 paper
NM_015137.6
p.P682P
c.2046G>A
1 paper
NM_015137.6
p.M646V
c.1936A>G
2 papers
NM_015137.6
p.P637S
c.1909C>T
1 paper
NM_015137.6
p.I625V
c.1873A>G
1 paper
NM_015137.6
p.R594H
c.1781G>A
1 paper
NM_015137.6
p.I584N
c.1751T>A
1 paper
NM_015137.6
p.S581N
c.1742G>A
1 paper
NM_015137.6
p.I572L
c.1714A>C
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