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

2 papers

NM_022436.3

p.R183*

c.547C>T

Surrounding Variants

1 paper

NM_022436.3

p.A181A

c.543A>C

1 paper

NM_022436.3

p.A181V

c.542C>T

1 paper

NM_022436.3

p.A181T

c.541G>A

1 paper

NM_022436.3

p.N187N

c.561C>T

1 paper

NM_022436.3

p.L190W

c.569T>G

2 papers

NM_022436.3

p.G192fs

c.574_575fs

4 papers

NM_022436.3

p.G192delFs

c.575delC

1 paper

NM_022436.3

p.I193fs

c.577_578fs

1 paper

NM_022436.3

p.T195M

c.584C>T

1 paper

NM_022436.3

p.T195R

c.584C>G

1 paper

NM_022436.3

p.V168M

c.502G>A

14 papers

NM_022436.3

p.R198Q

c.593G>A