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

3 papers

NM_001393797.1

p.N323H

c.967A>C

Surrounding Variants

1 paper

NM_001393797.1

p.S320F

c.959C>T

1 paper

NM_001393797.1

p.Y315H

c.943T>C

1 paper

NM_001393797.1

p.L306L

c.916C>T

2 papers

NM_001393797.1

p.M302R

c.905T>G

1 paper

NM_001393797.1

p.L293F

c.879G>T

1 paper

NM_001393797.1

p.L293F

c.879G>C

1 paper

NM_001393797.1

p.S290S

c.870A>G

1 paper

NM_001393797.1

p.K282*

c.844A>T

1 paper

NM_001393797.1

p.A281A

c.843C>A

1 paper

NM_001393797.1

p.M278I

c.834G>T

1 paper

NM_001393797.1

p.M278I

c.834G>C

1 paper

NM_001393797.1

p.M278I

c.834G>A