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.A6T

c.16G>A

Surrounding Variants

1 paper

NM_005984.5

p.R5R

c.15C>G

2 papers

NM_005984.5

p.P4insFs

c.11dupC

3 papers

NM_005984.5

p.R5P

c.14G>C

1 paper

NM_005984.5

p.P4L

c.11C>T

1 paper

NM_005984.5

p.R8C

c.22C>T

1 paper

NM_005984.5

p.A3_P4insFs

c.9_10insG

1 paper

NM_005984.5

p.R8L

c.23G>T

9 papers

NM_005984.5

p.A9fs

c.25_26fs

5 papers

NM_005984.5

p.A6_R8insFs

c.18_24dup7

1 paper

NM_005984.5

p.P2T

c.4C>A

1 paper

NM_005984.5

p.M1insFs

c.2dupT

1 paper

NM_005984.5

p.M1I

c.3G>C