Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB14
Variant:p.P124L

EFCAB14

32 papers

Gene Aliases

HGNC Name

EF-hand calcium binding domain 14

HGNC Previous Symbol

KIAA0494

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014774.3
p.P124L
c.371C>T
Surrounding Variants
1 paper
NM_014774.3
p.E138K
c.412G>A
1 paper
NM_014774.3
p.W151*
c.452G>A
1 paper
NM_014774.3
p.W151*
c.453G>A
1 paper
NM_014774.3
p.T111K
c.332C>A
1 paper
NM_014774.3
p.R110Q
c.329G>A
1 paper
NM_014774.3
p.K108fs
c.322_323fs
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.R67L
c.200G>T
1 paper
NM_014774.3
p.R67Q
c.200G>A
1 paper
NM_014774.3
p.R67*
c.199C>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."