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.H504Q

c.1512C>G

Surrounding Variants

1 paper

NM_022437.3

p.H504Q

c.1512C>A

2 papers

NM_022437.3

p.P502P

c.1506G>A

1 paper

NM_022437.3

p.P502L

c.1505C>T

3 papers

NM_022437.3

p.I510del1

c.1528_1530delATC

5 papers

NM_022437.3

p.L501P

c.1502T>C

2 papers

NM_022437.3

p.E500D

c.1500G>C

2 papers

NM_022437.3

p.E500D

c.1500G>T

1 paper

NM_022437.3

p.E500fs

c.1498_1499fs

2 papers

NM_022437.3

p.G499R

c.1495G>A

2 papers

NM_022437.3

p.G499R

c.1495G>C

1 paper

NM_022437.3

p.L498_G499insFs

c.1494_1495ins10

1 paper

NM_022437.3

p.L498I

c.1492C>A