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

1–12 of 2583 variants

138 papers

NM_014251.3

p.R284_M285delFs

c.852_855del4

100 papers

NM_014251.3

p.A205_A206Splc

c.615+5G>A

93 papers

NM_014251.3

p.G393Splc

c.1177+1G>A

63 papers

NM_014251.3

p.T546_A554insFs

c.1638_1660dup23

57 papers

NM_014251.3

p.M285fs

c.853_854fs

52 papers

NM_014251.3

p.S225*

c.674C>A

43 papers

NM_014251.3

p.C437_A438Splc

c.1311+1G>A

33 papers

NM_014251.3

p.M1T

c.2T>C

33 papers

NM_014251.3

p.R184*

c.550C>T

33 papers

NM_014251.3

p.E601*

c.1801G>T

30 papers

NM_014251.3

p.R605*

c.1813C>T

25 papers

NM_014251.3

p.E601K

c.1801G>A