Varaico: Literature-Extracted Genetic Variants

SLC25A1

341 papers

RefSeq Summary

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the ...

Pfam Domains

Mito_carraa 14–110UCSCMitochondrial carrier protein

Mito_carraa 22–116UCSCMitochondrial carrier protein

Mito_carraa 113–205UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 1

HGNC Previous Symbol

SLC20A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005984.5

p.R65Q

c.194G>A

Surrounding Variants

1 paper

NM_005984.5

p.R65W

c.193C>T

1 paper

NM_005984.5

p.I67N

c.200T>A

1 paper

NM_005984.5

p.R63L

c.188G>T

1 paper

NM_005984.5

p.R63P

c.188G>C

1 paper

NM_005984.5

p.R63Q

c.188G>A

1 paper

NM_005984.5

p.I67I

c.201C>A

1 paper

NM_005984.5

p.G68Splc

c.202+2T>G

1 paper

NM_005984.5

p.P61S

c.181C>T

1 paper

NM_005984.5

p.H60D

c.178C>G

1 paper

NM_005984.5

p.S59S

c.177G>C

1 paper

NM_005984.5

p.D56Y

c.166G>T

1 paper

NM_005984.5

p.Q52H

c.156G>T