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.G246S

c.736G>A

Surrounding Variants

1 paper

NM_016818.3

p.F253S

c.758T>C

1 paper

NM_016818.3

p.R267_S268del1

c.801_803delCTC

1 paper

NM_016818.3

p.I269F

c.805A>T

2 papers

NM_016818.3

p.I273V

c.817A>G

1 paper

NM_016818.3

p.H274R

c.821A>G

2 papers

NM_016818.3

p.L280L

c.840C>A

2 papers

NM_016818.3

p.F281L

c.841T>C

1 paper

NM_016818.3

p.V289I

c.865G>A

1 paper

NM_016818.3

p.G293G

c.879A>T

1 paper

NM_016818.3

p.K300I

c.899A>T

1 paper

NM_016818.3

p.L304P

c.911T>C

1 paper

NM_016818.3

p.V305A

c.914T>C