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.Y131H

c.391T>C

Surrounding Variants

3 papers

NM_022436.3

p.Y131C

c.392A>G

1 paper

NM_022436.3

p.S130C

c.389C>G

1 paper

NM_022436.3

p.V132V

c.396C>T

1 paper

NM_022436.3

p.Q134_S135Splc

c.402+1G>A

2 papers

NM_022436.3

p.Q126*

c.376C>T

1 paper

NM_022436.3

p.F125L

c.375C>G

1 paper

NM_022436.3

p.F125L

c.375C>A

1 paper

NM_022436.3

p.F125L

c.373T>C

1 paper

NM_022436.3

p.A119T

c.355G>A

1 paper

NM_022436.3

p.R118R

c.354G>A

1 paper

NM_022436.3

p.G117D

c.350G>A

1 paper

NM_022436.3

p.N116K

c.348C>G