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.Y516delins

c.1546_1547delinsAG

Surrounding Variants

1 paper

NM_022437.3

p.Y516C

c.1547A>G

1 paper

NM_022437.3

p.L518L

c.1554G>C

9 papers

NM_022437.3

p.G512R

c.1534G>A

9 papers

NM_022437.3

p.G512R

c.1534G>C

1 paper

NM_022437.3

p.N520K

c.1560C>A

1 paper

NM_022437.3

p.N520K

c.1560C>G

1 paper

NM_022437.3

p.L521P

c.1562T>C

4 papers

NM_022437.3

p.P523L

c.1568C>T

1 paper

NM_022437.3

p.G524S

c.1570G>A

3 papers

NM_022437.3

p.I510del1

c.1528_1530delATC

1 paper

NM_022437.3

p.H504Q

c.1512C>A

1 paper

NM_022437.3

p.H504Q

c.1512C>G