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.A546T

c.1636G>A

Surrounding Variants

1 paper

NM_022437.3

p.M545I

c.1635G>C

1 paper

NM_022437.3

p.M545I

c.1635G>T

2 papers

NM_022437.3

p.L547P

c.1640T>C

1 paper

NM_022437.3

p.A548D

c.1643C>A

16 papers

NM_022437.3

p.R543S

c.1629G>C

16 papers

NM_022437.3

p.R543S

c.1629G>T

2 papers

NM_022437.3

p.A549T

c.1645G>A

2 papers

NM_022437.3

p.A550T

c.1648G>A

1 paper

NM_022437.3

p.A550V

c.1649C>T

1 paper

NM_022437.3

p.C541Y

c.1622G>A

1 paper

NM_022437.3

p.L552delFs

c.1654delC

2 papers

NM_022437.3

p.F540I

c.1618T>A