Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.G390E

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.G390E
c.1169G>A
Surrounding Variants
1 paper
NM_015137.6
p.L424P
c.1271T>C
1 paper
NM_015137.6
p.M442_V443Splc
c.1327-7T>G
1 paper
NM_015137.6
p.T451M
c.1352C>T
1 paper
NM_015137.6
p.P457Q
c.1370C>A
1 paper
NM_015137.6
p.N492fs
c.1474_1475fs
1 paper
NM_015137.6
p.R500Splc
c.1499+3A>T
1 paper
NM_015137.6
p.P503T
c.1507C>A
1 paper
NM_015137.6
p.P503L
c.1508C>T
1 paper
NM_015137.6
p.D504G
c.1511A>G
1 paper
NM_015137.6
p.L508P
c.1523T>C
1 paper
NM_015137.6
p.I510V
c.1528A>G
1 paper
NM_015137.6
p.Q384E
c.1150C>G
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