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_001357321.2

p.T400K

c.1199C>A

Surrounding Variants

1 paper

NM_022437.3

p.T401M

c.1202C>T

7 papers

NM_022437.3

p.T401S

c.1201A>T

79 papers

NM_022437.3

p.T400K

c.1199C>A

1 paper

NM_022437.3

p.T400S

c.1198A>T

1 paper

NM_022437.3

p.I403F

c.1207A>T

1 paper

NM_022437.3

p.F399S

c.1196T>C

1 paper

NM_022437.3

p.R404C

c.1210C>T

1 paper

NM_022437.3

p.R404H

c.1211G>A

1 paper

NM_022437.3

p.Q397*

c.1189C>T

1 paper

NM_022437.3

p.V396M

c.1186G>A

1 paper

NM_022437.3

p.V396L

c.1186G>C

1 paper

NM_022437.3

p.A395V

c.1184C>T