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

7 papers

NM_014251.3

p.V381fs

c.1141_1142fs

Surrounding Variants

7 papers

NM_014251.3

p.V381delFs

c.1141delC

1 paper

NM_014251.3

p.L382L

c.1144C>T

1 paper

NM_014251.3

p.L382I

c.1144C>A

1 paper

NM_014251.3

p.K380*

c.1138A>T

1 paper

NM_014251.3

p.K379N

c.1137G>T

1 paper

NM_014251.3

p.K379N

c.1137G>C

1 paper

NM_014251.3

p.K379M

c.1136A>T

1 paper

NM_014251.3

p.L382L

c.1146A>G

2 papers

NM_014251.3

p.R383C

c.1147C>T

1 paper

NM_014251.3

p.R383G

c.1147C>G

4 papers

NM_014251.3

p.L382delFs

c.1146delT

1 paper

NM_014251.3

p.R383H

c.1148G>A