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.G10delFs

c.29delC

Surrounding Variants

1 paper

NM_030780.5

p.Q6delFs

c.16delG

1 paper

NM_030780.5

p.T16M

c.47C>T

1 paper

NM_030780.5

p.V17A

c.50T>C

1 paper

NM_030780.5

p.H20_V21insFs

c.60_61insT

1 paper

NM_030780.5

p.H20_V21insFs

c.60_61insAC

1 paper

NM_030780.5

p.S36P

c.106T>C

1 paper

NM_030780.5

p.A39S

c.115G>T

1 paper

NM_030780.5

p.H41Y

c.121C>T

1 paper

NM_030780.5

p.I48M

c.144C>G

1 paper

NM_030780.5

p.I48_R49insFs

c.144_145insC

1 paper

NM_030780.5

p.G55V

c.164G>T

1 paper

NM_030780.5

p.P60_K61insT

c.178_182ins3