Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A6
Variant:p.D56E

SLC25A6

55 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitoc...

Pfam Domains

Mito_carraa 4–103UCSCMitochondrial carrier protein
Mito_carraa 109–206UCSCMitochondrial carrier protein
Mito_carraa 206–298UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 6

HGNC Previous Symbol

ANT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001636.4
p.D56E
c.168C>G
Surrounding Variants
1 paper
NM_001636.4
p.D56E
c.168C>A
4 papers
NM_001636.4
p.Q50R
c.149A>G
1 paper
NM_001636.4
p.N74Y
c.220A>T
1 paper
NM_001636.4
p.A118insFs
c.354dupC
1 paper
NM_001636.4
p.S119fs
c.355_356fs
1 paper
NM_001636.4
p.A118Fs
c.354delinsCTFs
1 paper
NM_001636.4
p.S119fs
c.355_356fs
1 paper
NM_001636.4
p.G200S
c.598G>A
1 paper
NM_001636.4
p.K33Q
c.97A>C
1 paper
NM_001636.4
p.G200S
c.598G>A
1 paper
NM_001636.4
p.I210V
c.628A>G
1 paper
NM_001636.4
p.S213R
c.637A>C
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