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.T58T

c.174A>T

Surrounding Variants

1 paper

NM_022436.3

p.I57V

c.169A>G

1 paper

NM_022436.3

p.D56D

c.168C>T

1 paper

NM_022436.3

p.R61W

c.181C>T

1 paper

NM_022436.3

p.R61Q

c.182G>A

1 paper

NM_022436.3

p.W55R

c.163T>A

3 papers

NM_022436.3

p.W54*

c.162G>A

5 papers

NM_022436.3

p.W54*

c.161G>A

1 paper

NM_022436.3

p.W64*

c.191G>A

1 paper

NM_022436.3

p.T65S

c.193A>T

1 paper

NM_022436.3

p.T65A

c.193A>G

36 papers

NM_022436.3

p.R50C

c.148C>T

2 papers

NM_022436.3

p.I68N

c.203T>A