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

5 papers

NM_007188.5

p.R304C

c.910C>T

Surrounding Variants

1 paper

NM_007188.5

p.R304H

c.911G>A

1 paper

NM_007188.5

p.Q309_I310Splc

c.927+8C>T

1 paper

NM_007188.5

p.A264V

c.791C>T

1 paper

NM_007188.5

p.R258Q

c.773G>A

1 paper

NM_007188.5

p.A311T

c.931G>A

1 paper

NM_007188.5

p.L321L

c.961C>T

1 paper

NM_007188.5

p.A331T

c.991G>A

1 paper

NM_007188.5

p.E333K

c.997G>A

1 paper

NM_007188.5

p.I358V

c.1072A>G

1 paper

NM_007188.5

p.Q362*

c.1084C>T

1 paper

NM_007188.5

p.G386R

c.1156G>A

1 paper

NM_007188.5

p.Q387*

c.1159C>T