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.C30delFs

c.88delT

Surrounding Variants

1 paper

NM_016818.3

p.V29G

c.86T>G

1 paper

NM_016818.3

p.D34D

c.102T>C

1 paper

NM_016818.3

p.T24M

c.71C>T

1 paper

NM_016818.3

p.A21V

c.62C>T

1 paper

NM_016818.3

p.S39delFs

c.115delA

1 paper

NM_016818.3

p.A16T

c.46G>A

1 paper

NM_016818.3

p.T46S

c.136A>T

1 paper

NM_016818.3

p.T46delFs

c.138delG

1 paper

NM_016818.3

p.D57V

c.170A>T

1 paper

NM_016818.3

p.R65C

c.193C>T

1 paper

NM_016818.3

p.R65H

c.194G>A

1 paper

NM_016818.3

p.F66delFs

c.197delT