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.F109L

c.327C>A

Surrounding Variants

1 paper

NM_022436.3

p.F109L

c.327C>G

1 paper

NM_022436.3

p.F109L

c.325T>C

1 paper

NM_022436.3

p.L110Q

c.329T>A

1 paper

NM_022436.3

p.G111W

c.331G>T

2 papers

NM_022436.3

p.G111E

c.332G>A

6 papers

NM_022436.3

p.E112insFs

c.335dupA

1 paper

NM_022436.3

p.T108_E112delFs

c.323_335del13

3 papers

NM_022436.3

p.V113insFs

c.337_338insA

1 paper

NM_022436.3

p.V113fs

c.337_338fs

1 paper

NM_022436.3

p.R105L

c.314G>T

1 paper

NM_022436.3

p.G104G

c.312G>A

1 paper

NM_022436.3

p.L103P

c.308T>C