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.S81W

c.242C>G

Surrounding Variants

1 paper

NM_001393797.1

p.T82T

c.246A>G

1 paper

NM_001393797.1

p.P79Q

c.236C>A

1 paper

NM_001393797.1

p.T88insFs

c.262_263ins7

1 paper

NM_001393797.1

p.T88_N89insFs

c.264_265ins38

1 paper

NM_001393797.1

p.K66delFs

c.198delT

1 paper

NM_001393797.1

p.G67fs

c.199_200fs

1 paper

NM_001393797.1

p.V65E

c.194T>A

2 papers

NM_001393797.1

p.P62L

c.185C>T

1 paper

NM_001393797.1

p.L51I

c.151C>A

1 paper

NM_001393797.1

p.A49T

c.145G>A

1 paper

NM_001393797.1

p.D47A

c.140A>C

1 paper

NM_001393797.1

p.D47fs

c.139_140fs