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

4 papers

NM_022437.3

p.Q302*

c.904C>T

Surrounding Variants

1 paper

NM_022437.3

p.Q302L

c.905A>T

1 paper

NM_022437.3

p.V301V

c.903C>G

1 paper

NM_022437.3

p.M300I

c.900G>A

1 paper

NM_022437.3

p.M300I

c.900G>C

1 paper

NM_022437.3

p.M300I

c.900G>T

1 paper

NM_022437.3

p.Y303*

c.909T>A

1 paper

NM_022437.3

p.Y303*

c.909T>G

1 paper

NM_022437.3

p.F304L

c.910T>C

1 paper

NM_022437.3

p.F304L

c.912C>A

1 paper

NM_022437.3

p.F304L

c.912C>G

2 papers

NM_022437.3

p.Q298Q

c.894G>A

1 paper

NM_022437.3

p.L294*

c.881T>A