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.S1054*

c.3161C>A

Surrounding Variants

1 paper

NM_001393797.1

p.S1054L

c.3161C>T

1 paper

NM_001393797.1

p.S1054*

c.3161C>G

1 paper

NM_001393797.1

p.S1050C

c.3149C>G

1 paper

NM_001393797.1

p.S1050Y

c.3149C>A

1 paper

NM_001393797.1

p.R1028R

c.3084A>G

2 papers

NM_001393797.1

p.L1027fs

c.3079_3080fs

4 papers

NM_001393797.1

p.L1027delFs

c.3080delA

4 papers

NM_001393797.1

p.W1024*

c.3072G>A

4 papers

NM_001393797.1

p.W1024*

c.3071G>A

1 paper

NM_001393797.1

p.Y1013H

c.3037T>C

1 paper

NM_001393797.1

p.Y1013H

c.3037T>C

1 paper

NM_001393797.1

p.G1005G

c.3015C>G