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

10 papers

NM_022436.3

p.R406Q

c.1217G>A

Surrounding Variants

1 paper

NM_022436.3

p.R406W

c.1216C>T

18 papers

NM_022436.3

p.R408*

c.1222C>T

1 paper

NM_022436.3

p.R408insFs

c.1222_1223ins5

2 papers

NM_022436.3

p.R408Q

c.1223G>A

1 paper

NM_022436.3

p.F403F

c.1209C>T

1 paper

NM_022436.3

p.F402F

c.1206C>T

1 paper

NM_022436.3

p.N410D

c.1228A>G

1 paper

NM_022436.3

p.F402S

c.1205T>C

3 papers

NM_022436.3

p.L401H

c.1202T>A

1 paper

NM_022436.3

p.L412L

c.1234C>T

1 paper

NM_022436.3

p.L400L

c.1200C>T

1 paper

NM_022436.3

p.G397S

c.1189G>A