Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB8
Variant:p.E308V

EFCAB8

30 papers

Pfam Domains

WD40aa 364–398UCSCWD domain, G-beta repeat
WD40aa 403–442UCSCWD domain, G-beta repeat
WD40aa 942–980UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

EF-hand calcium binding domain 8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001143967.2
p.E308V
c.923A>T
Surrounding Variants
1 paper
NM_001143967.2
p.E276K
c.826G>A
1 paper
NM_001143967.2
p.G259S
c.775G>A
1 paper
NM_001143967.2
p.Q199*
c.595C>T
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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."