Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB7

EFCAB7

59 papers

Gene Aliases

HGNC Name

EF-hand calcium binding domain 7

HGNC Alias Symbols

KIAA1799; RP4-534K7.1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
5 papers
NM_032437.4
p.R375K
c.1124G>A
4 papers
NM_032437.4
p.R97S
c.291G>C
4 papers
NM_032437.4
p.R97S
c.291G>T
4 papers
NM_032437.4
p.T248I
c.743C>T
4 papers
NM_032437.4
p.M262T
c.785T>C
3 papers
NM_032437.4
p.Y292C
c.875A>G
3 papers
NM_032437.4
p.Y391H
c.1171T>C
2 papers
NM_032437.4
p.Y167C
c.500A>G
2 papers
NM_032437.4
p.G228Splc
c.683-1G>C
2 papers
NM_032437.4
p.V324I
c.970G>A
2 papers
NM_032437.4
p.I594V
c.1780A>G
1 paper
NM_032437.4
p.A2V
c.5C>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."