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.A945D

c.2834C>A

Surrounding Variants

1 paper

NM_001393797.1

p.E918Q

c.2752G>C

1 paper

NM_001393797.1

p.T876N

c.2627C>A

1 paper

NM_001393797.1

p.V867F

c.2599G>T

1 paper

NM_001393797.1

p.V867I

c.2599G>A

4 papers

NM_001393797.1

p.V850A

c.2549T>C

1 paper

NM_001393797.1

p.H849Y

c.2545C>T

1 paper

NM_001393797.1

p.A844T

c.2530G>A

2 papers

NM_001393797.1

p.Q831*

c.2491C>T

1 paper

NM_001393797.1

p.R825_M826Splc

c.2475+2T>C

1 paper

NM_001393797.1

p.R825W

c.2473C>T

1 paper

NM_001393797.1

p.K822M

c.2465A>T

1 paper

NM_001393797.1

p.L818I

c.2452C>A