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.V409I

c.1225G>A

Surrounding Variants

5 papers

NM_016818.3

p.H412H

c.1236C>T

1 paper

NM_016818.3

p.G422A

c.1265G>C

1 paper

NM_016818.3

p.S408_V409Splc

c.1225-49C>T

1 paper

NM_016818.3

p.Y429S

c.1286A>C

2 papers

NM_016818.3

p.S441N

c.1322G>A

1 paper

NM_016818.3

p.S443delFs

c.1327delT

1 paper

NM_016818.3

p.F452S

c.1355T>C

1 paper

NM_016818.3

p.Y481_M492del12

c.1441_1475del36

1 paper

NM_016818.3

p.S482R

c.1446C>G

1 paper

NM_016818.3

p.L483Q

c.1448T>A

1 paper

NM_004915.4

p.L500M

c.1498C>A

1 paper

NM_016818.3

p.M500V

c.1498A>G