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.A568T

c.1702G>A

Surrounding Variants

1 paper

NM_007188.5

p.A571A

c.1713G>A

4 papers

NM_007188.5

p.S560C

c.1679C>G

1 paper

NM_007188.5

p.I577L

c.1729A>C

2 papers

NM_007188.5

p.A559T

c.1675G>A

1 paper

NM_007188.5

p.V588V

c.1764C>T

1 paper

NM_007188.5

p.V542I

c.1624G>A

1 paper

NM_007188.5

p.P526L

c.1577C>T

1 paper

NM_007188.5

p.D525N

c.1573G>A

1 paper

NM_007188.5

p.R522S

c.1564C>A

1 paper

NM_007188.5

p.R522C

c.1564C>T

1 paper

NM_007188.5

p.V513M

c.1537G>A

1 paper

NM_007188.5

p.E504A

c.1511A>C