Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB12
Variant:p.K82R

EFCAB12

33 papers

Gene Aliases

HGNC Name

EF-hand calcium binding domain 12

HGNC Previous Symbol

C3orf25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207307.3
p.K82R
c.245A>G
Surrounding Variants
1 paper
NM_207307.3
p.P81R
c.242C>G
1 paper
NM_207307.3
p.P80fs
c.238_239fs
1 paper
NM_207307.3
p.E66G
c.197A>G
1 paper
NM_207307.3
p.P53_I59del0
c.159_176del18
1 paper
NM_207307.3
p.D121H
c.361G>C
1 paper
NM_207307.3
p.W125*
c.374G>A
1 paper
NM_207307.3
p.I38insFs
c.114dupT
1 paper
NM_207307.3
p.W125*
c.375G>A
1 paper
NM_207307.3
p.T133S
c.397A>T
1 paper
NM_207307.3
p.T133M
c.398C>T
1 paper
NM_207307.3
p.P134L
c.401C>T
1 paper
NM_207307.3
p.H141fs
c.421_422fs
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