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

6 papers

NM_022436.3

p.E77*

c.229G>T

Surrounding Variants

7 papers

NM_022436.3

p.G79R

c.235G>C

7 papers

NM_022436.3

p.G79R

c.235G>A

1 paper

NM_022436.3

p.Q80R

c.239A>G

1 paper

NM_022436.3

p.V72delFs

c.214delC

1 paper

NM_022436.3

p.D71N

c.211G>A

1 paper

NM_022436.3

p.L85V

c.253C>G

1 paper

NM_022436.3

p.L85Q

c.254T>A

2 papers

NM_022436.3

p.I68N

c.203T>A

1 paper

NM_022436.3

p.L85L

c.255A>T

1 paper

NM_022436.3

p.S87R

c.259A>C

1 paper

NM_022436.3

p.S87R

c.261C>G

1 paper

NM_022436.3

p.S87R

c.261C>A