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

1–12 of 203 variants

7 papers

NM_016818.3

p.G123R

c.367G>A

6 papers

NM_016818.3

p.V86G

c.257T>G

5 papers

NM_016818.3

p.K124M

c.371A>T

5 papers

NM_016818.3

p.V325Splc

c.973+672G>A

5 papers

NM_016818.3

p.H412H

c.1236C>T

3 papers

NM_016818.3

p.F8F

c.24C>T

3 papers

NM_016818.3

p.I104N

c.311T>A

3 papers

NM_016818.3

p.M196_V197Splc

c.589-407A>G

3 papers

NM_016818.3

p.V325Splc

c.974-898C>G

2 papers

NM_016818.3

p.G96Splc

c.286+7029C>T

2 papers

NM_016818.3

p.G103E

c.308G>A

2 papers

NM_016818.3

p.L113L

c.339G>A