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.I387L

c.1159A>C

Surrounding Variants

1 paper

NM_022436.3

p.T388M

c.1163C>T

1 paper

NM_022436.3

p.R389C

c.1165C>T

1 paper

NM_022436.3

p.R389G

c.1165C>G

59 papers

NM_022436.3

p.R389H

c.1166G>A

1 paper

NM_022436.3

p.R389R

c.1167T>C

1 paper

NM_022436.3

p.V380G

c.1139T>G

1 paper

NM_022436.3

p.L394M

c.1180C>A

1 paper

NM_022436.3

p.G397S

c.1189G>A

1 paper

NM_022436.3

p.R374T

c.1121G>C

1 paper

NM_022436.3

p.R374K

c.1121G>A

1 paper

NM_022436.3

p.R373Splc

c.1119-1G>C

2 papers

NM_022436.3

p.R373Splc

c.1119-1G>A