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

4 papers

NM_001393797.1

p.G164*

c.490G>T

Surrounding Variants

1 paper

NM_001393797.1

p.I163N

c.488T>A

1 paper

NM_001393797.1

p.G162S

c.484G>A

1 paper

NM_001393797.1

p.E173K

c.517G>A

1 paper

NM_001393797.1

p.F174S

c.521T>C

1 paper

NM_001393797.1

p.K176E

c.526A>G

1 paper

NM_001393797.1

p.Q151H

c.453G>T

1 paper

NM_001393797.1

p.Q151H

c.453G>C

1 paper

NM_001393797.1

p.L144V

c.430C>G

1 paper

NM_001393797.1

p.T190T

c.570G>A

1 paper

NM_001393797.1

p.R193Q

c.578G>A

1 paper

NM_001393797.1

p.V196L

c.586G>T

1 paper

NM_001393797.1

p.V196L

c.586G>C