Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A40

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
1–12 of 30 variants
3 papers
NM_018843.4
p.Y125C
c.374A>G
2 papers
NM_018843.4
p.T123I
c.368C>T
2 papers
NM_018843.4
p.I318N
c.953T>A
1 paper
NM_018843.4
p.P15H
c.44C>A
1 paper
NM_018843.4
p.L16H
c.47T>A
1 paper
NM_018843.4
p.C23R
c.67T>C
1 paper
NM_018843.4
p.T29S
c.85A>T
1 paper
NM_018843.4
p.K52N
c.156A>T
1 paper
NM_018843.4
p.K52N
c.156A>C
1 paper
NM_018843.4
p.G61V
c.182G>T
1 paper
NM_018843.4
p.M63I
c.189G>T
1 paper
NM_018843.4
p.M63I
c.189G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."