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.S245R

c.735C>A

Surrounding Variants

1 paper

NM_022437.3

p.S245R

c.735C>G

1 paper

NM_022437.3

p.S245R

c.733A>C

1 paper

NM_022437.3

p.T247K

c.740C>A

1 paper

NM_022437.3

p.D244N

c.730G>A

1 paper

NM_022437.3

p.L243P

c.728T>C

1 paper

NM_022437.3

p.A248D

c.743C>A

1 paper

NM_022437.3

p.L243F

c.727C>T

1 paper

NM_022437.3

p.S241C

c.722C>G

2 papers

NM_022437.3

p.S241F

c.722C>T

2 papers

NM_022437.3

p.L251L

c.751C>T

1 paper

NM_022437.3

p.P239L

c.716C>T

1 paper

NM_022437.3

p.E238D

c.714A>C