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

15 papers

NM_022436.3

p.N437K

c.1311C>G

Surrounding Variants

1 paper

NM_022436.3

p.N437N

c.1311C>T

15 papers

NM_022436.3

p.N437K

c.1311C>A

2 papers

NM_022436.3

p.N440K

c.1320T>G

2 papers

NM_022436.3

p.N440K

c.1320T>A

1 paper

NM_022436.3

p.G434R

c.1300G>C

1 paper

NM_022436.3

p.Y432*

c.1296C>G

1 paper

NM_022436.3

p.Y432*

c.1296C>A

2 papers

NM_022436.3

p.Y432F

c.1295A>T

3 papers

NM_022436.3

p.P431L

c.1292C>T

2 papers

NM_022436.3

p.T430N

c.1289C>A

2 papers

NM_022436.3

p.A429T

c.1285G>A

2 papers

NM_022436.3

p.F426S

c.1277T>C