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

1–12 of 17 variants

2 papers

NM_006358.4

p.R197W

c.589C>T

1 paper

NM_006358.4

p.M1T

c.2T>C

1 paper

NM_006358.4

p.V18_G19Splc

c.54+1993G>A

1 paper

NM_006358.4

p.V18_G19Splc

c.55-1G>T

1 paper

NM_006358.4

p.L52H

c.155T>A

1 paper

NM_006358.4

p.E54G

c.161A>G

1 paper

NM_006358.4

p.H98Y

c.292C>T

1 paper

NM_006358.4

p.H98R

c.293A>G

1 paper

NM_006358.4

p.D104G

c.311A>G

1 paper

NM_006358.4

p.S163S

c.489G>A

1 paper

NM_006358.4

p.G168D

c.503G>A

1 paper

NM_006358.4

p.R191R

c.573G>A