Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A39
Variant:p.P221H

SLC25A39

35 papers

RefSeq Summary

This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embed...

Pfam Domains

Mito_carraa 8–57UCSCMitochondrial carrier protein
Mito_carraa 8–133UCSCMitochondrial carrier protein
Mito_carraa 95–156UCSCMitochondrial carrier protein
Mito_carraa 158–248UCSCMitochondrial carrier protein
Mito_carraa 251–352UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 39

HGNC Alias Symbols

FLJ22407; CGI-69

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001143780.3
p.P221H
c.662C>A
Surrounding Variants
1 paper
NM_001143780.3
p.G218V
c.653G>T
1 paper
NM_001143780.3
p.R225*
c.673C>T
2 papers
NM_001143780.3
p.D226A
c.677A>C
1 paper
NM_001143780.3
p.V207_S214del8
c.619_641del24
1 paper
NM_001143780.3
p.A223_P228delFs
c.669_682del14
1 paper
NM_001143780.3
p.T187I
c.560C>T
1 paper
NM_001143780.3
p.R186W
c.556C>T
1 paper
NM_001143780.3
p.S159delFs
c.475delA
1 paper
NM_001143780.3
p.F247L
c.739T>C
1 paper
NM_001143780.3
p.K149_A150delFs
c.445_448del4
1 paper
NM_001143780.3
p.K149T
c.446A>C
2 papers
NM_001143780.3
p.T253N
c.758C>A
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