Varaico: Literature-Extracted Genetic Variants

ABCG5

506 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 69–221UCSCABC transporter

ABC2_membrane_7aa 250–350UCSCABC-2 type transporter

ABC2_membraneaa 366–580UCSCABC-2 type transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily G member 5

HGNC Alias Symbol

STSL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022436.3

p.F442F

c.1326T>C

Surrounding Variants

1 paper

NM_022436.3

p.F442Splc

c.1325-1G>A

3 papers

NM_022436.3

p.F442Splc

c.1325-2A>G

1 paper

NM_022436.3

p.V444M

c.1330G>A

2 papers

NM_022436.3

p.V444A

c.1331T>C

77 papers

NM_022436.3

p.R446*

c.1336C>T

1 paper

NM_022436.3

p.R446G

c.1336C>G

10 papers

NM_022436.3

p.R446Q

c.1337G>A

1 paper

NM_022436.3

p.V448_S449insFs

c.1344_1345insC

1 paper

NM_022436.3

p.S449_D450insN

c.1345_1349ins3

1 paper

NM_022436.3

p.S449S

c.1347C>T

2 papers

NM_022436.3

p.D450H

c.1348G>C

1 paper

NM_022436.3

p.E452K

c.1354G>A