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

1–12 of 188 variants

4 papers

NM_001393797.1

p.G164*

c.490G>T

4 papers

NM_001393797.1

p.V850A

c.2549T>C

4 papers

NM_001393797.1

p.W1024*

c.3071G>A

4 papers

NM_001393797.1

p.W1024*

c.3072G>A

4 papers

NM_001393797.1

p.L1027delFs

c.3080delA

4 papers

NM_001393797.1

p.R1117C

c.3349C>T

4 papers

NM_001393797.1

p.F1349L

c.4045T>C

4 papers

NM_001393797.1

p.F1349L

c.4047T>G

4 papers

NM_001393797.1

p.F1349L

c.4047T>A

3 papers

NM_001393797.1

p.N323H

c.967A>C

2 papers

NM_001393797.1

p.R17W

c.49C>T

2 papers

NM_001393797.1

p.P37S

c.109C>T