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.F359L

c.1075T>C

Surrounding Variants

1 paper

NM_022437.3

p.D358G

c.1073A>G

1 paper

NM_022437.3

p.F359L

c.1077T>A

1 paper

NM_022437.3

p.F359L

c.1077T>G

1 paper

NM_022437.3

p.L360del1

c.1078_1079delCTA

1 paper

NM_022437.3

p.W361R

c.1081T>A

1 paper

NM_022437.3

p.W361R

c.1081T>C

43 papers

NM_022437.3

p.W361*

c.1082G>A

46 papers

NM_022437.3

p.W361*

c.1083G>A

1 paper

NM_022437.3

p.R354H

c.1061G>A

1 paper

NM_022437.3

p.R354insFs

c.1061_1062insT

1 paper

NM_022437.3

p.T365A

c.1093A>G

3 papers

NM_022437.3

p.T365M

c.1094C>T