Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.Q952*

EFCAB5

85 papers

Pfam Domains

EFCAB5_Caa 1311–1503UCSCEFCAB5 C-terminal domain

Gene Aliases

HGNC Name

EF-hand calcium binding domain 5

HGNC Alias Symbol

FLJ46247

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198529.4
p.Q952*
c.2854C>T
Surrounding Variants
1 paper
NM_198529.4
p.V942fs
c.2824_2825fs
1 paper
NM_198529.4
p.L941insFs
c.2822_2823ins4
1 paper
NM_198529.4
p.R929K
c.2786G>A
1 paper
NM_198529.4
p.H926H
c.2778C>T
1 paper
NM_198529.4
p.G993V
c.2978G>T
1 paper
NM_198529.4
p.A1011V
c.3032C>T
1 paper
NM_198529.4
p.H1014L
c.3041A>T
1 paper
NM_198529.4
p.K1017*
c.3049A>T
1 paper
NM_198529.4
p.S1024F
c.3071C>T
1 paper
NM_198529.4
p.L1054P
c.3161T>C
1 paper
NM_198529.4
p.V1078F
c.3232G>T
1 paper
NM_198529.4
p.R1094S
c.3280C>A
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."