Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB8
Variant:p.K123I

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.K123I
c.368A>T
Surrounding Variants
1 paper
NM_001143967.2
p.R118C
c.352C>T
1 paper
NM_001143967.2
p.D100N
c.298G>A
1 paper
NM_001143967.2
p.E90K
c.268G>A
1 paper
NM_001143967.2
p.C165*
c.495T>A
1 paper
NM_001143967.2
p.G173R
c.517G>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."