Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB14

EFCAB14

32 papers

Gene Aliases

HGNC Name

EF-hand calcium binding domain 14

HGNC Previous Symbol

KIAA0494

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
2 papers
NM_014774.3
p.V282V
c.846G>C
1 paper
NM_014774.3
p.G12A
c.35G>C
1 paper
NM_014774.3
p.R18Q
c.53G>A
1 paper
NM_014774.3
p.R67*
c.199C>T
1 paper
NM_014774.3
p.R67L
c.200G>T
1 paper
NM_014774.3
p.R67Q
c.200G>A
1 paper
NM_014774.3
p.K106N
c.318G>T
1 paper
NM_014774.3
p.K106N
c.318G>C
1 paper
NM_014774.3
p.K108fs
c.322_323fs
1 paper
NM_014774.3
p.R110Q
c.329G>A
1 paper
NM_014774.3
p.T111K
c.332C>A
1 paper
NM_014774.3
p.P124L
c.371C>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."