Varaico: Literature-Extracted Genetic Variants

SLC25A3

327 papers

RefSeq Summary

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related s...

Pfam Domains

Mito_carraa 62–152UCSCMitochondrial carrier protein

Mito_carraa 161–249UCSCMitochondrial carrier protein

Mito_carraa 259–343UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 3

HGNC Alias Symbol

PiC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_002635.4

p.N12H

c.34A>C

Surrounding Variants

1 paper

NM_002635.4

p.N12T

c.35A>C

1 paper

NM_002635.4

p.P13T

c.37C>A

1 paper

NM_002635.4

p.A11T

c.31G>A

1 paper

NM_002635.4

p.A11insFs

c.32dupC

1 paper

NM_002635.4

p.R10_A11ins6

c.28_32ins18

1 paper

NM_002635.4

p.T16M

c.47C>T

1 paper

NM_002635.4

p.P17R

c.50C>G

1 paper

NM_002635.4

p.P17delFs

c.51delA

1 paper

NM_002635.4

p.H18R

c.53A>G

2 papers

NM_002635.4

p.H18L

c.53A>T

1 paper

NM_002635.4

p.S4C

c.11C>G

1 paper

NM_002635.4

p.S4A

c.10T>G