Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.A5P

EFCAB5

85 papers

Pfam Domains

EFCAB5_Caa 1311–1503UCSCEFCAB5 C-terminal domain

Gene Aliases

HGNC Name

EF-hand calcium binding domain 5

HGNC Alias Symbol

FLJ46247

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198529.4
p.A5P
c.13G>C
Surrounding Variants
1 paper
NM_198529.4
p.E3*
c.7G>T
1 paper
NM_198529.4
p.R17delFs
c.49_50delAG
1 paper
NM_198529.4
p.W25insFs
c.73_74insG
1 paper
NM_198529.4
p.E29delFs
c.85delG
1 paper
NM_198529.4
p.E29fs
c.85_86fs
1 paper
NM_198529.4
p.E35_T36Splc
c.105+5A>G
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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."