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.L634R

c.1901T>G

Surrounding Variants

1 paper

NM_022436.3

p.V635D

c.1904T>A

4 papers

NM_022436.3

p.P632L

c.1895C>T

1 paper

NM_022436.3

p.P632S

c.1894C>T

6 papers

NM_022436.3

p.F630delFs

c.1890delA

1 paper

NM_022436.3

p.F630fs

c.1888_1889fs

1 paper

NM_022436.3

p.F630L

c.1890T>G

1 paper

NM_022436.3

p.F630L

c.1890T>A

1 paper

NM_022436.3

p.G638R

c.1912G>C

1 paper

NM_022436.3

p.G638R

c.1912G>A

1 paper

NM_022436.3

p.F630L

c.1888T>C

2 papers

NM_022436.3

p.F630fs

c.1888_1889fs

1 paper

NM_022436.3

p.I639delFs

c.1915delT