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.D185_M187Fs

c.554_559delinsTGTGFs

Surrounding Variants

1 paper

NM_014251.3

p.D182_I186del5

c.544_557del15

1 paper

NM_014251.3

p.I186I

c.558C>T

1 paper

NM_014251.3

p.I186M

c.558C>G

1 paper

NM_014251.3

p.I186del1

c.556_557delGAT

1 paper

NM_014251.3

p.F183_M187del5

c.547_560del15

1 paper

NM_014251.3

p.D185V

c.554A>T

1 paper

NM_014251.3

p.D185N

c.553G>A

1 paper

NM_014251.3

p.R184L

c.551G>T

1 paper

NM_014251.3

p.R184Q

c.551G>A

1 paper

NM_014251.3

p.T189T

c.567C>T

33 papers

NM_014251.3

p.R184*

c.550C>T

1 paper

NM_014251.3

p.I190fs

c.568_569fs