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.E204fs

c.610_611fs

Surrounding Variants

1 paper

NM_030780.5

p.Y210*

c.630C>A

1 paper

NM_030780.5

p.S194_H195insFs

c.582_583insTA

1 paper

NM_030780.5

p.S194L

c.581C>T

1 paper

NM_030780.5

p.S194P

c.580T>C

1 paper

NM_030780.5

p.G192E

c.575G>A

1 paper

NM_030780.5

p.K184_G185Splc

c.553-1G>A

1 paper

NM_030780.5

p.I228I

c.684A>T

1 paper

NM_030780.5

p.K235R

c.704A>G

1 paper

NM_030780.5

p.A240T

c.718G>A

1 paper

NM_030780.5

p.R249fs

c.745_746fs

1 paper

NM_030780.5

p.A250P

c.748G>C

1 paper

NM_030780.5

p.M257fs

c.769_770fs