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.Y458*

c.1374C>G

Surrounding Variants

1 paper

NM_022436.3

p.Y458*

c.1374C>A

2 papers

NM_022436.3

p.Q459*

c.1375C>T

1 paper

NM_022436.3

p.W461R

c.1381T>C

1 paper

NM_022436.3

p.W461R

c.1381T>A

1 paper

NM_022436.3

p.G456S

c.1366G>A

1 paper

NM_022436.3

p.E452D

c.1356G>T

1 paper

NM_022436.3

p.E452D

c.1356G>C

1 paper

NM_022436.3

p.E452K

c.1354G>A

2 papers

NM_022436.3

p.A466P

c.1396G>C

2 papers

NM_022436.3

p.A466T

c.1396G>A

2 papers

NM_022436.3

p.D450H

c.1348G>C

1 paper

NM_022436.3

p.S449S

c.1347C>T