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.Q604E

c.1810C>G

Surrounding Variants

1 paper

NM_014251.3

p.L603P

c.1808T>C

30 papers

NM_014251.3

p.R605*

c.1813C>T

1 paper

NM_014251.3

p.R605L

c.1814G>T

4 papers

NM_014251.3

p.R605Q

c.1814G>A

1 paper

NM_014251.3

p.R605R

c.1815A>G

1 paper

NM_014251.3

p.E601insFs

c.1802dupA

1 paper

NM_014251.3

p.W606R

c.1816T>C

1 paper

NM_014251.3

p.W606*

c.1818G>A

33 papers

NM_014251.3

p.E601*

c.1801G>T

25 papers

NM_014251.3

p.E601K

c.1801G>A

12 papers

NM_014251.3

p.Y600*

c.1800C>G

15 papers

NM_014251.3

p.Y600_E601insFs

c.1800_1801insA