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

5 papers

NM_030780.5

p.Y300C

c.899A>G

Surrounding Variants

1 paper

NM_030780.5

p.H305Q

c.915T>G

1 paper

NM_030780.5

p.H305Q

c.915T>A

1 paper

NM_030780.5

p.V289M

c.865G>A

1 paper

NM_030780.5

p.K280Q

c.838A>C

1 paper

NM_030780.5

p.G276S

c.826G>A

2 papers

NM_030780.5

p.G274G

c.822C>T

1 paper

NM_030780.5

p.E273K

c.817G>A

1 paper

NM_030780.5

p.K268_T269insAT

c.802_806ins6

1 paper

NM_030780.5

p.S260N

c.779G>A

1 paper

NM_030780.5

p.M257fs

c.769_770fs

1 paper

NM_030780.5

p.A250P

c.748G>C

1 paper

NM_030780.5

p.R249fs

c.745_746fs