Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB7
Variant:p.D418Y

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.D418Y
c.1252G>T
Surrounding Variants
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.E394G
c.1181A>G
3 papers
NM_032437.4
p.Y391H
c.1171T>C
1 paper
NM_032437.4
p.I380fs
c.1138_1139fs
1 paper
NM_032437.4
p.I380insFs
c.1138dupA
5 papers
NM_032437.4
p.R375K
c.1124G>A
1 paper
NM_032437.4
p.E450_N451delFs
c.1350_1351delGA
1 paper
NM_032437.4
p.N451fs
c.1351_1352fs
1 paper
NM_032437.4
p.M465V
c.1393A>G
1 paper
NM_032437.4
p.M489V
c.1465A>G
1 paper
NM_032437.4
p.N492S
c.1475A>G
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