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.Y424H

c.1270T>C

Surrounding Variants

1 paper

NM_022436.3

p.Q425L

c.1274A>T

1 paper

NM_022436.3

p.G421_L422Fs

c.1262_1264delinsTAFs

2 papers

NM_022436.3

p.F426S

c.1277T>C

1 paper

NM_022436.3

p.G421fs

c.1261_1262fs

1 paper

NM_022436.3

p.R419R

c.1257C>A

11 papers

NM_022436.3

p.R419P

c.1256G>C

31 papers

NM_022436.3

p.R419H

c.1256G>A

2 papers

NM_022436.3

p.A429T

c.1285G>A

3 papers

NM_022436.3

p.R419C

c.1255C>T

2 papers

NM_022436.3

p.T430N

c.1289C>A

3 papers

NM_022436.3

p.P431L

c.1292C>T

2 papers

NM_022436.3

p.Y432F

c.1295A>T