Varaico: Literature-Extracted Genetic Variants

SLC25A25

25 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the ...

Pfam Domains

EF-hand_8aa 53–79UCSCEF-hand domain pair

EF-hand_7aa 80–142UCSCEF-hand domain pair

Mito_carraa 182–275UCSCMitochondrial carrier protein

Mito_carraa 276–368UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 25

HGNC Alias Symbols

KIAA1896; PCSCL; MCSC

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

2 papers

NM_001330988.2

p.A340T

c.1018G>A

1 paper

NM_001330988.2

p.P29R

c.86C>G

1 paper

NM_001330988.2

p.D34N

c.100G>A

1 paper

NM_001330988.2

p.Q55E

c.163C>G

1 paper

NM_001330988.2

p.Q87_K88Splc

c.261+1G>A

1 paper

NM_001330988.2

p.G99R

c.295G>A

1 paper

NM_001330988.2

p.Q139L

c.416A>T

1 paper

NM_001330988.2

p.S149P

c.445T>C

1 paper

NM_001330988.2

p.Q151Q

c.453G>A

1 paper

NM_001006641.4

p.T165M

c.494C>T

1 paper

NM_001330988.2

p.F210L

c.628T>C

1 paper

NM_001330988.2

p.F210L

c.630T>A