Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A44

SLC25A44

26 papers

RefSeq Summary

SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008].

Pfam Domains

Mito_carraa 19–105UCSCMitochondrial carrier protein
Mito_carraa 105–213UCSCMitochondrial carrier protein
Mito_carraa 220–307UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 44

HGNC Alias Symbols

FLJ90431; KIAA0446

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_014655.4
p.R152Q
c.455G>A
1 paper
NM_014655.4
p.M1T
c.2T>C
1 paper
NM_014655.4
p.S52I
c.155G>T
1 paper
NM_014655.4
p.I64I
c.192C>T
1 paper
NM_014655.4
p.R75*
c.223C>T
1 paper
NM_014655.4
p.Y90H
c.268T>C
1 paper
NM_014655.4
p.R98Q
c.293G>A
1 paper
NM_014655.4
p.S107R
c.319A>C
1 paper
NM_014655.4
p.S107R
c.321T>A
1 paper
NM_014655.4
p.S107R
c.321T>G
1 paper
NM_014655.4
p.S125S
c.375C>T
1 paper
NM_014655.4
p.R141C
c.421C>T
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."