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.V10D

c.29T>A

Surrounding Variants

1 paper

NM_016818.3

p.S9*

c.26C>A

1 paper

NM_016818.3

p.F8L

c.24C>A

3 papers

NM_016818.3

p.F8F

c.24C>T

1 paper

NM_016818.3

p.T12T

c.36C>T

1 paper

NM_016818.3

p.M5R

c.14T>G

1 paper

NM_016818.3

p.M5insFs

c.14_15insC

1 paper

NM_016818.3

p.A2T

c.4G>A

1 paper

NM_207174.1

p.R7G

c.19C>G

1 paper

NM_016818.3

p.A16T

c.46G>A

1 paper

NM_016818.3

p.A21V

c.62C>T

1 paper

NM_016818.3

p.T24M

c.71C>T

1 paper

NM_016818.3

p.V29G

c.86T>G