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.N591S

c.1772A>G

Surrounding Variants

1 paper

NM_022436.3

p.S590L

c.1769C>T

2 papers

NM_022436.3

p.S590*

c.1769C>G

2 papers

NM_022436.3

p.S590*

c.1769C>A

5 papers

NM_022436.3

p.G588Splc

c.1763-1G>A

1 paper

NM_022436.3

p.T596A

c.1786A>G

4 papers

NM_022436.3

p.C600Y

c.1799G>A

1 paper

NM_022436.3

p.C600*

c.1800T>A

61 papers

NM_022436.3

p.Q604E

c.1810C>G

1 paper

NM_022436.3

p.Q604K

c.1810C>A

1 paper

NM_022436.3

p.G605R

c.1813G>C

1 paper

NM_022436.3

p.I609V

c.1825A>G

1 paper

NM_022436.3

p.E610A

c.1829A>C