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

1 paper

NM_022437.3

p.K496_I497Splc

c.1488+22C>T

Surrounding Variants

1 paper

NM_022437.3

p.K496M

c.1487A>T

2 papers

NM_022437.3

p.K496E

c.1486A>G

1 paper

NM_022437.3

p.K496insFs

c.1487_1488insA

8 papers

NM_022437.3

p.Y492*

c.1476T>A

8 papers

NM_022437.3

p.Y492*

c.1476T>G

1 paper

NM_022437.3

p.G490S

c.1468G>A

1 paper

NM_022437.3

p.G485R

c.1453G>A

1 paper

NM_022437.3

p.G485R

c.1453G>C

3 papers

NM_022437.3

p.L482fs

c.1444_1445fs

3 papers

NM_022437.3

p.L482delFs

c.1444delC

3 papers

NM_022437.3

p.Y479C

c.1436A>G

4 papers

NM_022437.3

p.S473*

c.1418C>A