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.L537*

c.1610T>A

Surrounding Variants

1 paper

NM_014251.3

p.A535_L537insFs

c.1603_1609dup7

1 paper

NM_014251.3

p.L537*

c.1610T>G

1 paper

NM_014251.3

p.L537delFs

c.1610delA

1 paper

NM_014251.3

p.L537fs

c.1609_1610fs

1 paper

NM_014251.3

p.S536S

c.1608T>C

1 paper

NM_014251.3

p.V538L

c.1612G>T

1 paper

NM_014251.3

p.V538L

c.1612G>C

1 paper

NM_014251.3

p.L537delFs

c.1611delT

14 papers

NM_014251.3

p.L537_V538Fs

c.1610_1612delinsATFs

1 paper

NM_014251.3

p.V538G

c.1613T>G

1 paper

NM_014251.3

p.V538A

c.1613T>C

1 paper

NM_014251.3

p.M532_A535delFs

c.1595_1605del11