Varaico: Literature-Extracted Genetic Variants

SLC25A13

425 papers

RefSeq Summary

This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyze...

Pfam Domains

Mito_carraa 324–423UCSCMitochondrial carrier protein

Mito_carraa 424–515UCSCMitochondrial carrier protein

Mito_carraa 516–611UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 13

HGNC Previous Symbol

CTLN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_014251.3

p.C437_A438Splc

c.1311+2T>G

Surrounding Variants

1 paper

NM_014251.3

p.C437_A438Splc

c.1311+1G>T

1 paper

NM_014251.3

p.C437_A438Splc

c.1311+1G>C

43 papers

NM_014251.3

p.C437_A438Splc

c.1311+1G>A

1 paper

NM_014251.3

p.C437_A438Splc

c.1311+3A>G

5 papers

NM_014251.3

p.C437C

c.1311C>T

1 paper

NM_014251.3

p.C437*

c.1311C>A

1 paper

NM_014251.3

p.C437S

c.1310G>C

1 paper

NM_014251.3

p.C437_A438Splc

c.1311+5G>A

1 paper

NM_014251.3

p.C437Y

c.1310G>A

1 paper

NM_014251.3

p.C437S

c.1309T>A

1 paper

NM_014251.3

p.G436G

c.1308C>A

1 paper

NM_014251.3

p.G436Fs

c.1308delinsAAFs