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.Q311_K312Splc

c.933+24C>T

Surrounding Variants

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+25A>C

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+22T>A

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+32G>A

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+10G>T

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+41A>T

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+6C>T

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+43C>T

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+4A>G

2 papers

NM_014251.3

p.Q311_K312insFs

c.933_934ins4

1 paper

NM_014251.3

p.Q311_K312Splc

c.933+47A>T

3 papers

NM_014251.3

p.Q311Q

c.933G>A

2 papers

NM_014251.3

p.Q311*

c.931C>T