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.A228P

c.682G>C

Surrounding Variants

1 paper

NM_022436.3

p.A228V

c.683C>T

1 paper

NM_022436.3

p.A228delFs

c.684delA

1 paper

NM_022436.3

p.I231V

c.691A>G

1 paper

NM_022436.3

p.I231T

c.692T>C

1 paper

NM_022436.3

p.L223P

c.668T>C

1 paper

NM_022436.3

p.L223L

c.667C>T

1 paper

NM_022436.3

p.T221I

c.662C>T

1 paper

NM_022436.3

p.T220delFs

c.660delG

1 paper

NM_022436.3

p.V236L

c.706G>C

1 paper

NM_022436.3

p.E237D

c.711A>T

1 paper

NM_022436.3

p.E218G

c.653A>G

2 papers

NM_022436.3

p.F216L

c.648T>G