Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A40
Variant:p.Y125C

SLC25A40

30 papers

RefSeq Summary

SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008].

Pfam Domains

Mito_carraa 12–136UCSCMitochondrial carrier protein
Mito_carraa 138–228UCSCMitochondrial carrier protein
Mito_carraa 231–332UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 40

HGNC Alias Symbol

MCFP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_018843.4
p.Y125C
c.374A>G
Surrounding Variants
2 papers
NM_018843.4
p.T123I
c.368C>T
1 paper
NM_018843.4
p.I120I
c.360T>A
1 paper
NM_018843.4
p.A117T
c.349G>A
1 paper
NM_018843.4
p.Q170*
c.508C>T
1 paper
NM_018843.4
p.D190N
c.568G>A
1 paper
NM_018843.4
p.S105N
c.314G>A
1 paper
NM_018843.4
p.I94_I95delFs
c.280_283del4
1 paper
NM_018843.4
p.A90T
c.268G>A
1 paper
NM_018843.4
p.W214S
c.641G>C
1 paper
NM_018843.4
p.W223R
c.667T>C
1 paper
NM_018843.4
p.W223R
c.667T>A
1 paper
NM_018843.4
p.Q262R
c.785A>G
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