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.E1261G

c.3782A>G

Surrounding Variants

1 paper

NM_001393797.1

p.Q1263E

c.3787C>G

1 paper

NM_001393797.1

p.Q1263_L1264insC

c.3787_3791ins3

1 paper

NM_001393797.1

p.R1269*

c.3805C>T

1 paper

NM_001393797.1

p.L1272L

c.3816C>T

1 paper

NM_001393797.1

p.T1238_I1239Splc

c.3715-59C>G

1 paper

NM_001393797.1

p.D1223N

c.3667G>A

1 paper

NM_001393797.1

p.T1284P

c.3850A>C

1 paper

NM_001393797.1

p.A1285T

c.3853G>A

1 paper

NM_001393797.1

p.R1314H

c.3941G>A

1 paper

NM_001393797.1

p.R1314R

c.3942C>T

1 paper

NM_001393797.1

p.V1324F

c.3970G>T

1 paper

NM_001393797.1

p.K1331_V1332Splc

c.3994-7C>T