Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB7
Variant:p.I380insFs

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
Selected Variant
1 paper
NM_032437.4
p.I380insFs
c.1138dupA
Surrounding Variants
1 paper
NM_032437.4
p.I380fs
c.1138_1139fs
5 papers
NM_032437.4
p.R375K
c.1124G>A
3 papers
NM_032437.4
p.Y391H
c.1171T>C
1 paper
NM_032437.4
p.E394G
c.1181A>G
1 paper
NM_032437.4
p.D418Y
c.1252G>T
1 paper
NM_032437.4
p.E450Splc
c.1348+2T>C
1 paper
NM_032437.4
p.E450Splc
c.1348+62C>G
1 paper
NM_032437.4
p.E335G
c.1004A>G
2 papers
NM_032437.4
p.V324I
c.970G>A
1 paper
NM_032437.4
p.L322F
c.966A>C
1 paper
NM_032437.4
p.L322F
c.966A>T
1 paper
NM_032437.4
p.G316Splc
c.947-12T>G
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