Varaico: Literature-Extracted Genetic Variants

ABCG8

546 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_tranaa 88–241UCSCABC transporter

ABC2_membrane_7aa 270–350UCSCABC-2 type transporter

ABC2_membraneaa 397–608UCSCABC-2 type transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily G member 8

HGNC Alias Symbol

GBD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022437.3

p.E8E

c.24G>A

Surrounding Variants

1 paper

NM_022437.3

p.R9_G10insFs

c.27_28insCC

1 paper

NM_022437.3

p.R9R

c.27A>G

1 paper

NM_022437.3

p.E7V

c.20A>T

1 paper

NM_022437.3

p.G10E

c.29G>A

1 paper

NM_022437.3

p.A6A

c.18A>T

2 papers

NM_022437.3

p.A6V

c.17C>T

1 paper

NM_022437.3

p.A6T

c.16G>A

1 paper

NM_022437.3

p.A5A

c.15G>A

1 paper

NM_022437.3

p.A5A

c.15G>T

1 paper

NM_022437.3

p.P12A

c.34C>G

1 paper

NM_022437.3

p.P12S

c.34C>T

1 paper

NM_022437.3

p.A5P

c.13G>C