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

3 papers

NM_022437.3

p.M1_A2insFs

c.3_4insT

Surrounding Variants

1 paper

NM_022437.3

p.A2delins

c.4delinsATGT

1 paper

NM_022437.3

p.A2P

c.4G>C

2 papers

NM_022437.3

p.A2insFs

c.4_5insC

2 papers

NM_022437.3

p.M1K

c.2T>A

2 papers

NM_022437.3

p.M1T

c.2T>C

1 paper

NM_022437.3

p.A2_A5del4

c.4_14del12

1 paper

NM_022437.3

p.M1_A2delFs

c.2_5del4

1 paper

NM_022437.3

p.A2A

c.6C>T

1 paper

NM_022437.3

p.G3insFs

c.8_9insT

1 paper

NM_022437.3

p.K4R

c.11A>G

1 paper

NM_022437.3

p.A5P

c.13G>C

1 paper

NM_022437.3

p.A5A

c.15G>A