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.I327N

c.980T>A

Surrounding Variants

1 paper

NM_022437.3

p.D328G

c.983A>G

3 papers

NM_022437.3

p.S326N

c.977G>A

1 paper

NM_022437.3

p.S326C

c.976A>T

1 paper

NM_022437.3

p.T325N

c.974C>A

1 paper

NM_022437.3

p.R329K

c.986G>A

1 paper

NM_022437.3

p.L324M

c.970C>A

1 paper

NM_022437.3

p.R330R

c.990C>T

1 paper

NM_022437.3

p.S331C

c.991A>T

1 paper

NM_022437.3

p.D323V

c.968A>T

3 papers

NM_022437.3

p.V322Splc

c.965-1G>A

8 papers

NM_022437.3

p.V322Splc

c.965-1G>C

1 paper

NM_022437.3

p.Q334*

c.1000C>T