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.L796I

c.2386C>A

Surrounding Variants

1 paper

NM_001393797.1

p.T798I

c.2393C>T

1 paper

NM_001393797.1

p.I806T

c.2417T>C

1 paper

NM_001393797.1

p.I806N

c.2417T>A

1 paper

NM_001393797.1

p.G807S

c.2419G>A

1 paper

NM_001393797.1

p.A809V

c.2426C>T

1 paper

NM_001393797.1

p.L818I

c.2452C>A

1 paper

NM_001393797.1

p.K822M

c.2465A>T

1 paper

NM_001393797.1

p.R825W

c.2473C>T

1 paper

NM_001393797.1

p.R825_M826Splc

c.2475+2T>C

2 papers

NM_001393797.1

p.Q831*

c.2491C>T

1 paper

NM_001393797.1

p.A844T

c.2530G>A

1 paper

NM_001393797.1

p.H849Y

c.2545C>T