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.Q55_V56Splc

c.165+1G>A

Surrounding Variants

53 papers

NM_022437.3

p.Y54C

c.161A>G

1 paper

NM_022437.3

p.Y54N

c.160T>A

3 papers

NM_022437.3

p.L52V

c.154C>G

1 paper

NM_022437.3

p.L52F

c.154C>T

3 papers

NM_022437.3

p.V49L

c.145G>C

1 paper

NM_022437.3

p.Q55_V56Splc

c.165+25G>T

3 papers

NM_022437.3

p.N45D

c.133A>G

1 paper

NM_022437.3

p.P44T

c.130C>A

1 paper

NM_022437.3

p.F38I

c.112T>A

1 paper

NM_022437.3

p.L36P

c.107T>C

2 papers

NM_022437.3

p.D33N

c.97G>A

1 paper

NM_022437.3

p.S32G

c.94A>G