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.W91C

c.273G>C

Surrounding Variants

1 paper

NM_016818.3

p.P90H

c.269C>A

1 paper

NM_016818.3

p.R93R

c.279G>A

1 paper

NM_016818.3

p.K95delFs

c.285delA

1 paper

NM_016818.3

p.E88K

c.262G>A

1 paper

NM_016818.3

p.G96V

c.287G>T

6 papers

NM_016818.3

p.V86G

c.257T>G

1 paper

NM_016818.3

p.V86I

c.256G>A

1 paper

NM_016818.3

p.S85L

c.254C>T

1 paper

NM_016818.3

p.S83F

c.248C>T

1 paper

NM_016818.3

p.F66delFs

c.197delT

1 paper

NM_016818.3

p.R65H

c.194G>A

1 paper

NM_016818.3

p.R65C

c.193C>T