Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB3
Variant:p.Q166H

EFCAB3

14 papers

Pfam Domains

EF-hand_8aa 63–115UCSCEF-hand domain pair
EF-hand_8aa 63–115UCSCEF-hand domain pair

Gene Aliases

HGNC Name

EF-hand calcium binding domain 3

HGNC Alias Symbol

FLJ25818

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173503.4
p.Q166H
c.498A>C
Surrounding Variants
1 paper
NM_173503.4
p.K187Q
c.559A>C
1 paper
NM_173503.4
p.A206V
c.617C>T
1 paper
NM_173503.4
p.W286*
c.857G>A
1 paper
NM_173503.4
p.W286*
c.858G>A
1 paper
NM_173503.4
p.Y338C
c.1013A>G
1 paper
NM_173503.4
p.R347*
c.1039C>T
1 paper
NM_173503.4
p.S370A
c.1108T>G
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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."