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

1 paper

NM_016818.3

p.G111S

c.331G>A

Surrounding Variants

1 paper

NM_016818.3

p.G111D

c.332G>A

1 paper

NM_016818.3

p.S110N

c.329G>A

1 paper

NM_016818.3

p.N109H

c.325A>C

1 paper

NM_016818.3

p.L113M

c.337T>A

2 papers

NM_016818.3

p.L113L

c.339G>A

1 paper

NM_016818.3

p.K107del1

c.319_320delAAG

1 paper

NM_016818.3

p.G106R

c.316G>A

1 paper

NM_016818.3

p.G106R

c.316G>C

3 papers

NM_016818.3

p.I104N

c.311T>A

2 papers

NM_016818.3

p.G103E

c.308G>A

1 paper

NM_016818.3

p.G103V

c.308G>T

1 paper

NM_016818.3

p.L101Q

c.302T>A