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

2 papers

NM_016818.3

p.I130V

c.388A>G

Surrounding Variants

1 paper

NM_016818.3

p.I130I

c.390C>A

1 paper

NM_207627.2

p.M130V

c.388A>G

1 paper

NM_016818.3

p.G133G

c.399A>G

1 paper

NM_016818.3

p.Y134*

c.402C>A

5 papers

NM_016818.3

p.K124M

c.371A>T

7 papers

NM_016818.3

p.G123R

c.367G>A

1 paper

NM_016818.3

p.G123R

c.367G>C

1 paper

NM_016818.3

p.G121A

c.362G>C

2 papers

NM_016818.3

p.L113L

c.339G>A

1 paper

NM_016818.3

p.L113M

c.337T>A

1 paper

NM_016818.3

p.G111D

c.332G>A

1 paper

NM_016818.3

p.G111S

c.331G>A