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.M454V

c.1360A>G

Surrounding Variants

1 paper

NM_022437.3

p.T448_A449insFs

c.1344_1345insC

1 paper

NM_022437.3

p.I464_I468del0

c.1392_1403del12

1 paper

NM_022437.3

p.V463I

c.1387G>A

2 papers

NM_022437.3

p.S444F

c.1331C>T

1 paper

NM_022437.3

p.S444T

c.1330T>A

1 paper

NM_022437.3

p.L465P

c.1394T>C

1 paper

NM_022437.3

p.L465R

c.1394T>G

3 papers

NM_022437.3

p.Q442*

c.1324C>T

1 paper

NM_022437.3

p.I468V

c.1402A>G

2 papers

NM_022437.3

p.I468delFs

c.1403_1404delTC

1 paper

NM_022437.3

p.S469fs

c.1405_1406fs

1 paper

NM_022437.3

p.G437G

c.1311C>T