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

1–12 of 449 variants

77 papers

NM_022436.3

p.R446*

c.1336C>T

61 papers

NM_022436.3

p.Q604E

c.1810C>G

59 papers

NM_022436.3

p.R389H

c.1166G>A

36 papers

NM_022436.3

p.R50C

c.148C>T

31 papers

NM_022436.3

p.R419H

c.1256G>A

23 papers

NM_022436.3

p.Q251*

c.751C>T

19 papers

NM_022436.3

p.A98G

c.293C>G

18 papers

NM_022436.3

p.R408*

c.1222C>T

17 papers

NM_022436.3

p.M622V

c.1864A>G

15 papers

NM_022436.3

p.N437K

c.1311C>G

15 papers

NM_022436.3

p.N437K

c.1311C>A

14 papers

NM_022436.3

p.R198Q

c.593G>A