Varaico: Literature-Extracted Genetic Variants

Gene:MPC1
Variant:p.H26Q

MPC1

34 papers

RefSeq Summary

The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. ...

Pfam Domains

MPCaa 10–109UCSCMitochondrial pyruvate carriers

Gene Aliases

HGNC Name

mitochondrial pyruvate carrier 1

HGNC Previous Symbol

BRP44L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016098.4
p.H26Q
c.78C>A
Surrounding Variants
1 paper
NM_016098.4
p.G29G
c.87C>A
2 papers
NM_016098.4
p.A32G
c.95C>G
1 paper
NM_016098.4
p.G35V
c.104G>T
1 paper
NM_016098.4
p.L36I
c.106C>A
1 paper
NM_016098.4
p.P37S
c.109C>T
1 paper
NM_016098.4
p.I50F
c.148A>T
2 papers
NM_016098.4
p.A58G
c.173C>G
1 paper
NM_016098.4
p.A58fs
c.172_173fs
1 paper
NM_016098.4
p.Y62F
c.185A>T
3 papers
NM_016098.4
p.A70T
c.208G>A
3 papers
NM_016098.4
p.K72E
c.214A>G
1 paper
NM_016098.4
p.V73L
c.217G>T
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