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.G131*

c.391G>T

Surrounding Variants

1 paper

NM_030780.5

p.E129K

c.385G>A

1 paper

NM_030780.5

p.A128T

c.382G>A

2 papers

NM_030780.5

p.R117H

c.350G>A

1 paper

NM_030780.5

p.G131*

c.391G>T

1 paper

NM_030780.5

p.L141F

c.423A>T

1 paper

NM_030780.5

p.L141F

c.423A>C

4 papers

NM_030780.5

p.W142*

c.425G>A

3 papers

NM_030780.5

p.W142*

c.426G>A

1 paper

NM_030780.5

p.T144_K145insC

c.430_434ins3

1 paper

NM_030780.5

p.R147L

c.440G>T

5 papers

NM_030780.5

p.R147H

c.440G>A

1 paper

NM_030780.5

p.L148V

c.442C>G