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.G575D

c.1724G>A

Surrounding Variants

5 papers

NM_022437.3

p.G575R

c.1723G>C

1 paper

NM_022437.3

p.F576insFs

c.1726_1727ins4

7 papers

NM_022437.3

p.G574E

c.1721G>A

39 papers

NM_022437.3

p.G574R

c.1720G>A

36 papers

NM_022437.3

p.G574R

c.1720G>C

11 papers

NM_022437.3

p.L572P

c.1715T>C

1 paper

NM_022437.3

p.N579I

c.1736A>T

1 paper

NM_022437.3

p.L580S

c.1739T>C

5 papers

NM_022437.3

p.F570del1

c.1708_1709delTTC

1 paper

NM_022437.3

p.N568T

c.1703A>C

1 paper

NM_022437.3

p.A565A

c.1695C>T

2 papers

NM_022437.3

p.V586Splc

c.1756+2T>A