Varaico: Literature-Extracted Genetic Variants

ABCC12

150 papers

RefSeq Summary

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport variou...

Pfam Domains

ABC_membraneaa 123–391UCSCABC transporter transmembrane region

ABC_tranaa 496–631UCSCABC transporter

ABC_membraneaa 795–1070UCSCABC transporter transmembrane region

ABC_tranaa 1137–1285UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 12

HGNC Alias Symbol

MRP9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001393797.1

p.I1178V

c.3532A>G

Surrounding Variants

1 paper

NM_001393797.1

p.T1177A

c.3529A>G

1 paper

NM_001393797.1

p.E1172_D1184del0

c.3516_3551del36

1 paper

NM_001393797.1

p.R1169H

c.3506G>A

1 paper

NM_001393797.1

p.I1187T

c.3560T>C

1 paper

NM_001393797.1

p.D1192A

c.3575A>C

1 paper

NM_001393797.1

p.K1196M

c.3587A>T

1 paper

NM_001393797.1

p.G1159R

c.3475G>C

1 paper

NM_001393797.1

p.G1159R

c.3475G>A

1 paper

NM_001393797.1

p.I1120V

c.3358A>G

4 papers

NM_001393797.1

p.R1117C

c.3349C>T

1 paper

NM_001393797.1

p.D1223N

c.3667G>A

1 paper

NM_001393797.1

p.T1238_I1239Splc

c.3715-59C>G