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.A347A

c.1041C>T

Surrounding Variants

1 paper

NM_022437.3

p.L350L

c.1048C>T

1 paper

NM_022437.3

p.E351K

c.1051G>A

1 paper

NM_022437.3

p.R354H

c.1061G>A

1 paper

NM_022437.3

p.R354insFs

c.1061_1062insT

2 papers

NM_022437.3

p.E340K

c.1018G>A

1 paper

NM_022437.3

p.D358G

c.1073A>G

1 paper

NM_022437.3

p.F359L

c.1075T>C

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.E335K

c.1003G>A

1 paper

NM_022437.3

p.Q334R

c.1001A>G