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.L313insFs

c.938_939insT

Surrounding Variants

1 paper

NM_004996.4

p.S312F

c.935C>T

1 paper

NM_004996.4

p.L313_F314insFs

c.939_940insT

1 paper

NM_004996.4

p.N310I

c.929A>T

1 paper

NM_004996.4

p.V316M

c.946G>A

1 paper

NM_004996.4

p.E308D

c.924G>C

1 paper

NM_004996.4

p.E308D

c.924G>T

1 paper

NM_004996.4

p.E308K

c.922G>A

2 papers

NM_004996.4

p.T320delFs

c.960delC

1 paper

NM_004996.4

p.P305P

c.915A>T

1 paper

NM_004996.4

p.F321insFs

c.961_962insG

1 paper

NM_004996.4

p.K303N

c.909G>C

1 paper

NM_004996.4

p.K303N

c.909G>T