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.N176H

c.526A>C

Surrounding Variants

1 paper

NM_007188.5

p.S178R

c.532A>C

1 paper

NM_007188.5

p.S178R

c.534C>A

1 paper

NM_007188.5

p.S178R

c.534C>G

1 paper

NM_007188.5

p.E173fs

c.517_518fs

1 paper

NM_007188.5

p.T172_E173delFs

c.516_517delTG

1 paper

NM_007188.5

p.V187D

c.560T>A

2 papers

NM_007188.5

p.V158V

c.474C>T

2 papers

NM_007188.5

p.I148T

c.443T>C

1 paper

NM_007188.5

p.I223V

c.667A>G

1 paper

NM_007188.5

p.T240S

c.718A>T

1 paper

NM_007188.5

p.T240T

c.720T>A

7 papers

NM_007188.5

p.V135I

c.403G>A