Varaico: Literature-Extracted Genetic Variants

ABCB8

77 papers

RefSeq Summary

This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organi...

Pfam Domains

ABC_membraneaa 148–425UCSCABC transporter transmembrane region

ABC_tranaa 490–640UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 8

HGNC Alias Symbols

EST328128; M-ABC1; MABC1; MITOSUR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007188.5

p.E99K

c.295G>A

Surrounding Variants

1 paper

NM_007188.5

p.A101T

c.301G>A

3 papers

NM_007188.5

p.L124V

c.370C>G

1 paper

NM_007188.5

p.A70A

c.210C>T

1 paper

NM_007188.5

p.L131fs

c.391_392fs

7 papers

NM_007188.5

p.V135I

c.403G>A

1 paper

NM_001282291.2

p.R76Q

c.227G>A

1 paper

NM_007188.5

p.R50Q

c.149G>A

1 paper

NM_007188.5

p.R50W

c.148C>T

1 paper

NM_007188.5

p.V46M

c.136G>A

2 papers

NM_007188.5

p.S39N

c.116G>A

1 paper

NM_007188.5

p.R38C

c.112C>T

1 paper

NM_007188.5

p.R32Splc

c.96-3C>T