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.V204A

c.611T>C

Surrounding Variants

1 paper

NM_014251.3

p.V204I

c.610G>A

1 paper

NM_014251.3

p.L203_V204insFs

c.607_611dup5

1 paper

NM_014251.3

p.L203L

c.609A>G

1 paper

NM_014251.3

p.C202_L203insFs

c.605_608dup4

1 paper

NM_014251.3

p.A205V

c.614C>T

1 paper

NM_014251.3

p.A205D

c.614C>A

2 papers

NM_014251.3

p.L203I

c.607C>A

17 papers

NM_014251.3

p.A205_A206Splc

c.615+1G>C

5 papers

NM_014251.3

p.A205_A206Splc

c.615+1G>A

100 papers

NM_014251.3

p.A205_A206Splc

c.615+5G>A

1 paper

NM_014251.3

p.A205_A206Splc

c.615+8G>T

1 paper

NM_014251.3

p.A205_A206Splc

c.615+8G>A