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

1–12 of 480 variants

151 papers

NM_022437.3

p.D19H

c.55G>C

79 papers

NM_022437.3

p.T400K

c.1199C>A

53 papers

NM_022437.3

p.Y54C

c.161A>G

46 papers

NM_022437.3

p.W361*

c.1083G>A

43 papers

NM_022437.3

p.W361*

c.1082G>A

39 papers

NM_022437.3

p.G574R

c.1720G>A

36 papers

NM_022437.3

p.G574R

c.1720G>C

25 papers

NM_022437.3

p.R263Q

c.788G>A

22 papers

NM_022437.3

p.V632A

c.1895T>C

18 papers

NM_022437.3

p.R412*

c.1234C>T

18 papers

NM_022437.3

p.M429V

c.1285A>G

16 papers

NM_022437.3

p.R543S

c.1629G>C