Varaico: Literature-Extracted Genetic Variants

Gene:EFR3A
Variant:p.I786V

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
3 papers
NM_015137.6
p.I786V
c.2356A>G
Surrounding Variants
1 paper
NM_015137.6
p.T785A
c.2353A>G
1 paper
NM_015137.6
p.R787H
c.2360G>A
2 papers
NM_015137.6
p.K770E
c.2308A>G
2 papers
NM_015137.6
p.R749C
c.2245C>T
1 paper
NM_015137.6
p.D736Splc
c.2206+4A>G
1 paper
NM_015137.6
p.D736Splc
c.2206+4A>T
2 papers
NM_015137.6
p.K732E
c.2194A>G
1 paper
NM_015137.6
p.P715S
c.2143C>T
1 paper
NM_015137.6
p.V703L
c.2107G>C
1 paper
NM_015137.6
p.V703L
c.2107G>T
1 paper
NM_015137.6
p.P792R
c.2375C>G
1 paper
NM_015137.6
p.Q804*
c.2410C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."