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.R370W

c.1108C>T

Surrounding Variants

1 paper

NM_016818.3

p.E373delFs

c.1117_1118delGA

2 papers

NM_016818.3

p.A361V

c.1082C>T

1 paper

NM_016818.3

p.D360delFs

c.1080delT

2 papers

NM_016818.3

p.G358R

c.1072G>A

2 papers

NM_016818.3

p.G358R

c.1072G>C

1 paper

NM_016818.3

p.D352Y

c.1054G>T

1 paper

NM_207174.1

p.G358S

c.1072G>A

1 paper

NM_207174.1

p.G358R

c.1072G>C

1 paper

NM_016818.3

p.R345Q

c.1034G>A

1 paper

NM_207627.2

p.R341R

c.1023G>A

1 paper

NM_016818.3

p.R339Q

c.1016G>A

1 paper

NM_016818.3

p.R339G

c.1015C>G