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.S10*

c.29C>A

Surrounding Variants

1 paper

NM_001393797.1

p.S10*

c.29C>G

1 paper

NM_001393797.1

p.R15*

c.43C>T

2 papers

NM_001393797.1

p.R17W

c.49C>T

1 paper

NM_001393797.1

p.R18W

c.52C>T

1 paper

NM_001393797.1

p.R19T

c.56G>C

1 paper

NM_001393797.1

p.L29M

c.85C>A

1 paper

NM_001393797.1

p.K30*

c.88A>T

2 papers

NM_001393797.1

p.P37S

c.109C>T

1 paper

NM_001393797.1

p.P45L

c.134C>T

1 paper

NM_001393797.1

p.D47fs

c.139_140fs

1 paper

NM_001393797.1

p.D47A

c.140A>C

1 paper

NM_001393797.1

p.A49T

c.145G>A