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

19 papers

NM_022436.3

p.A98G

c.293C>G

Surrounding Variants

2 papers

NM_022436.3

p.A98delins

c.292_293delinsTG

1 paper

NM_022436.3

p.A98S

c.292G>T

2 papers

NM_022436.3

p.M99R

c.296T>G

1 paper

NM_022436.3

p.M99I

c.297G>A

1 paper

NM_022436.3

p.L95P

c.284T>C

2 papers

NM_022436.3

p.T94R

c.281C>G

1 paper

NM_022436.3

p.T93T

c.279C>G

1 paper

NM_022436.3

p.L103P

c.308T>C

1 paper

NM_022436.3

p.G104G

c.312G>A

1 paper

NM_022436.3

p.K92E

c.274A>G

1 paper

NM_022436.3

p.R105L

c.314G>T

2 papers

NM_022436.3

p.G91E

c.272G>A