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

1 paper

NM_014251.3

p.V346_Y347del2

c.1036_1040del6

Surrounding Variants

1 paper

NM_014251.3

p.V346_Y347del1

c.1038_1040delTAC

2 papers

NM_014251.3

p.P348L

c.1043C>T

1 paper

NM_014251.3

p.P348H

c.1043C>A

1 paper

NM_014251.3

p.Y347F

c.1040A>T

1 paper

NM_014251.3

p.I349F

c.1045A>T

1 paper

NM_014251.3

p.I349V

c.1045A>G

1 paper

NM_014251.3

p.I349L

c.1045A>C

1 paper

NM_014251.3

p.I349T

c.1046T>C

1 paper

NM_014251.3

p.V341_A345del5

c.1021_1034del15

1 paper

NM_014251.3

p.I349I

c.1047C>T

12 papers

NM_014251.3

p.D350N

c.1048G>A

1 paper

NM_014251.3

p.V346M

c.1036G>A