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

1–12 of 64 variants

5 papers

NM_030780.5

p.R147H

c.440G>A

5 papers

NM_030780.5

p.Y300C

c.899A>G

4 papers

NM_030780.5

p.W142*

c.425G>A

3 papers

NM_030780.5

p.W142*

c.426G>A

2 papers

NM_030780.5

p.L98P

c.293T>C

2 papers

NM_030780.5

p.R117H

c.350G>A

2 papers

NM_030780.5

p.Y174C

c.521A>G

2 papers

NM_030780.5

p.Y183C

c.548A>G

2 papers

NM_030780.5

p.G274G

c.822C>T

1 paper

NM_030780.5

p.Q6delFs

c.16delG

1 paper

NM_030780.5

p.G10delFs

c.29delC

1 paper

NM_030780.5

p.T16M

c.47C>T