Varaico: Literature-Extracted Genetic Variants

ABCG1

195 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 101–245UCSCABC transporter

ABC2_membrane_7aa 274–345UCSCABC-2 type transporter

ABC2_membraneaa 403–614UCSCABC-2 type transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily G member 1

HGNC Alias Symbol

ABC8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_016818.3

p.M196_V197Splc

c.589-407A>G

Surrounding Variants

1 paper

NM_207174.1

p.E210K

c.628G>A

1 paper

NM_016818.3

p.A203E

c.608C>A

1 paper

NM_016818.3

p.A203V

c.608C>T

1 paper

NM_016818.3

p.A210T

c.628G>A

2 papers

NM_016818.3

p.A210D

c.629C>A

1 paper

NM_016818.3

p.R213L

c.638G>T

1 paper

NM_016818.3

p.G215R

c.643G>A

1 paper

NM_016818.3

p.G215R

c.643G>C

1 paper

NM_016818.3

p.G215W

c.643G>T

1 paper

NM_016818.3

p.G220S

c.658G>A

1 paper

NM_016818.3

p.Q221P

c.662A>C

1 paper

NM_016818.3

p.R222C

c.664C>T