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

2 papers

NM_022437.3

p.A259V

c.776C>T

Surrounding Variants

1 paper

NM_022437.3

p.L258M

c.772C>A

1 paper

NM_022437.3

p.G261D

c.782G>A

3 papers

NM_022437.3

p.N262K

c.786C>A

3 papers

NM_022437.3

p.N262K

c.786C>G

2 papers

NM_022437.3

p.R263W

c.787C>T

1 paper

NM_022437.3

p.R263delFs

c.789delG

25 papers

NM_022437.3

p.R263Q

c.788G>A

2 papers

NM_022437.3

p.L264fs

c.790_791fs

2 papers

NM_022437.3

p.L251L

c.751C>T

1 paper

NM_022437.3

p.A248D

c.743C>A

5 papers

NM_022437.3

p.Q271*

c.811C>T

1 paper

NM_022437.3

p.Q271R

c.812A>G