Varaico: Literature-Extracted Genetic Variants

ABCC1

896 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC gene...

Pfam Domains

TMD0_ABCaa 17–170UCSCABC transporter TMD0 domain

ABC_membraneaa 325–596UCSCABC transporter transmembrane region

ABC_tranaa 661–796UCSCABC transporter

ABC_membraneaa 975–1244UCSCABC transporter transmembrane region

ABC_tranaa 1310–1458UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 1

HGNC Previous Symbols

MRP; MRP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004996.4

p.Y53insFs

c.159dupC

Surrounding Variants

1 paper

NM_004996.4

p.F52insFs

c.155_156insG

1 paper

NM_004996.4

p.F54F

c.162C>T

1 paper

NM_004996.4

p.L55F

c.163C>T

1 paper

NM_004996.4

p.P51A

c.151C>G

1 paper

NM_004996.4

p.F50Y

c.149T>A

3 papers

NM_004996.4

p.C49Y

c.146G>A

2 papers

NM_004996.4

p.C49S

c.146G>C

1 paper

NM_004996.4

p.L57L

c.171C>G

1 paper

NM_004996.4

p.C49S

c.145T>A

1 paper

NM_004996.4

p.C49G

c.145T>G

1 paper

NM_004996.4

p.S58P

c.172T>C

3 papers

NM_004996.4

p.R59*

c.175C>T