Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB8

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
1–12 of 35 variants
1 paper
NM_001143967.2
p.P18L
c.53C>T
1 paper
NM_001143967.2
p.S67L
c.200C>T
1 paper
NM_001143967.2
p.E90K
c.268G>A
1 paper
NM_001143967.2
p.D100N
c.298G>A
1 paper
NM_001143967.2
p.R118C
c.352C>T
1 paper
NM_001143967.2
p.K123I
c.368A>T
1 paper
NM_001143967.2
p.C165*
c.495T>A
1 paper
NM_001143967.2
p.G173R
c.517G>A
1 paper
NM_001143967.2
p.Q199*
c.595C>T
1 paper
NM_001143967.2
p.G259S
c.775G>A
1 paper
NM_001143967.2
p.E276K
c.826G>A
1 paper
NM_001143967.2
p.E308V
c.923A>T
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