Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A29
Variant:p.R186C

SLC25A29

36 papers

RefSeq Summary

This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are invol...

Pfam Domains

Mito_carraa 1–91UCSCMitochondrial carrier protein
Mito_carraa 1–91UCSCMitochondrial carrier protein
Mito_carraa 88–182UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 29

HGNC Previous Symbol

C14orf69

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039355.3
p.R186C
c.556C>T
Surrounding Variants
1 paper
NM_001039355.3
p.P190fs
c.568_569fs
1 paper
NM_001039355.3
p.L193P
c.578T>C
1 paper
NM_001039355.3
p.A178V
c.533C>T
1 paper
NM_001039355.3
p.R177P
c.530G>C
1 paper
NM_001039355.3
p.R177G
c.529C>G
1 paper
NM_001039355.3
p.E161K
c.481G>A
1 paper
NM_001039355.3
p.T157T
c.471G>A
1 paper
NM_001039355.3
p.V155M
c.463G>A
1 paper
NM_001039355.3
p.D220A
c.659A>C
2 papers
NM_001039355.3
p.G221R
c.661G>C
2 papers
NM_001039355.3
p.G221R
c.661G>A
1 paper
NM_001039355.3
p.G221E
c.662G>A
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