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.L414V

c.1240C>G

Surrounding Variants

1 paper

NM_022437.3

p.P415H

c.1244C>A

18 papers

NM_022437.3

p.R412*

c.1234C>T

1 paper

NM_022437.3

p.D410N

c.1228G>A

1 paper

NM_022437.3

p.L418H

c.1253T>A

1 paper

NM_022437.3

p.N409T

c.1226A>C

4 papers

NM_022437.3

p.N409S

c.1226A>G

2 papers

NM_022437.3

p.N409I

c.1226A>T

7 papers

NM_022437.3

p.N409D

c.1225A>G

6 papers

NM_022437.3

p.I419N

c.1256T>A

2 papers

NM_022437.3

p.I419delins

c.1256_1257delinsAA

1 paper

NM_022437.3

p.I419I

c.1257C>A

1 paper

NM_022437.3

p.Q406K

c.1216C>A