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.E332V

c.995A>T

Surrounding Variants

1 paper

NM_016818.3

p.E332K

c.994G>A

1 paper

NM_016818.3

p.G331G

c.993C>T

1 paper

NM_016818.3

p.Y333H

c.997T>C

1 paper

NM_016818.3

p.G331S

c.991G>A

1 paper

NM_016818.3

p.G334S

c.1000G>A

1 paper

NM_016818.3

p.G334D

c.1001G>A

1 paper

NM_016818.3

p.D335N

c.1003G>A

1 paper

NM_016818.3

p.R339G

c.1015C>G

1 paper

NM_016818.3

p.R339W

c.1015C>T

1 paper

NM_016818.3

p.R339Q

c.1016G>A

1 paper

NM_207627.2

p.R341R

c.1023G>A

1 paper

NM_016818.3

p.R345Q

c.1034G>A