Varaico: Literature-Extracted Genetic Variants

SLC25A32

57 papers

RefSeq Summary

This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spl...

Pfam Domains

Mito_carraa 19–114UCSCMitochondrial carrier protein

Mito_carraa 116–213UCSCMitochondrial carrier protein

Mito_carraa 220–311UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 32

HGNC Alias Symbol

MFTC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030780.5

p.T71A

c.211A>G

Surrounding Variants

1 paper

NM_030780.5

p.D76N

c.226G>A

1 paper

NM_030780.5

p.P60_K61insT

c.178_182ins3

1 paper

NM_030780.5

p.P60_K61insAC

c.178_182ins6

1 paper

NM_030780.5

p.G55V

c.164G>T

1 paper

NM_030780.5

p.N88Y

c.262A>T

1 paper

NM_030780.5

p.W90insFs

c.268_269insAT

1 paper

NM_030780.5

p.W90fs

c.268_269fs

1 paper

NM_030780.5

p.G91S

c.271G>A

1 paper

NM_030780.5

p.G91V

c.272G>T

2 papers

NM_030780.5

p.L98P

c.293T>C

2 papers

NM_030780.5

p.R117H

c.350G>A

1 paper

NM_030780.5

p.A128T

c.382G>A