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.G432V

c.1295G>T

Surrounding Variants

2 papers

NM_022437.3

p.G432S

c.1294G>A

3 papers

NM_022437.3

p.T430N

c.1289C>A

1 paper

NM_022437.3

p.Y435S

c.1304A>C

1 paper

NM_022437.3

p.M429T

c.1286T>C

5 papers

NM_022437.3

p.M429L

c.1285A>C

18 papers

NM_022437.3

p.M429V

c.1285A>G

5 papers

NM_022437.3

p.M429L

c.1285A>T

1 paper

NM_022437.3

p.G437G

c.1311C>T

1 paper

NM_022437.3

p.L426P

c.1277T>C

5 papers

NM_022437.3

p.E423D

c.1269G>C

5 papers

NM_022437.3

p.E423D

c.1269G>T

2 papers

NM_022437.3

p.E423K

c.1267G>A