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

1–12 of 73 variants

7 papers

NM_007188.5

p.V135I

c.403G>A

5 papers

NM_007188.5

p.R304C

c.910C>T

4 papers

NM_007188.5

p.S560C

c.1679C>G

3 papers

NM_007188.5

p.L124V

c.370C>G

3 papers

NM_007188.5

p.A673G

c.2018C>G

2 papers

NM_007188.5

p.S39N

c.116G>A

2 papers

NM_007188.5

p.I148T

c.443T>C

2 papers

NM_007188.5

p.V158V

c.474C>T

2 papers

NM_007188.5

p.A559T

c.1675G>A

1 paper

NM_007188.5

p.L5V

c.13T>G

1 paper

NM_007188.5

p.P22S

c.64C>T

1 paper

NM_007188.5

p.F25fs

c.73_74fs