Varaico: Literature-Extracted Genetic Variants

SLC25A11

52 papers

RefSeq Summary

The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., ...

Pfam Domains

Mito_carraa 18–112UCSCMitochondrial carrier protein

Mito_carraa 115–213UCSCMitochondrial carrier protein

Mito_carraa 215–310UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 11

HGNC Previous Symbol

SLC20A4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003562.5

p.P239T

c.715C>A

Surrounding Variants

1 paper

NM_003562.5

p.V240delFs

c.720delC

1 paper

NM_003562.5

p.S237_I242del6

c.709_725del18

1 paper

NM_003562.5

p.K244E

c.730A>G

1 paper

NM_003562.5

p.V240_T245delFs

c.720_733del14

1 paper

NM_003562.5

p.V232I

c.694G>A

1 paper

NM_003562.5

p.S229C

c.685A>T

1 paper

NM_003562.5

p.M227I

c.681G>T

1 paper

NM_003562.5

p.M227I

c.681G>C

1 paper

NM_003562.5

p.M227I

c.681G>A

1 paper

NM_003562.5

p.S226C

c.676A>T

1 paper

NM_003562.5

p.A225D

c.674C>A

1 paper

NM_003562.5

p.C224S

c.671G>C