Varaico: Literature-Extracted Genetic Variants

SLC25A17

26 papers

RefSeq Summary

This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing re...

Pfam Domains

Mito_carraa 6–97UCSCMitochondrial carrier protein

Mito_carraa 97–197UCSCMitochondrial carrier protein

Mito_carraa 198–297UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 17

HGNC Alias Symbol

PMP34

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006358.4

p.A272T

c.814G>A

Surrounding Variants

1 paper

NM_006358.4

p.G265A

c.794G>C

1 paper

NM_006358.4

p.M264T

c.791T>C

1 paper

NM_006358.4

p.M299V

c.895A>G

1 paper

NM_006358.4

p.P222L

c.665C>T

2 papers

NM_006358.4

p.R197W

c.589C>T

1 paper

NM_006358.4

p.R191R

c.573G>A

1 paper

NM_006358.4

p.G168D

c.503G>A

1 paper

NM_006358.4

p.S163S

c.489G>A