Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A40
Variant:p.I318N

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
2 papers
NM_018843.4
p.I318N
c.953T>A
Surrounding Variants
1 paper
NM_018843.4
p.N294T
c.881A>C
1 paper
NM_018843.4
p.H280_T283del4
c.838_848del12
1 paper
NM_018843.4
p.Q264*
c.790C>T
1 paper
NM_018843.4
p.Q262R
c.785A>G
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.W214S
c.641G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."