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.P272L

c.815C>T

Surrounding Variants

1 paper

NM_004996.4

p.P272A

c.814C>G

1 paper

NM_004996.4

p.P272S

c.814C>T

15 papers

NM_004996.4

p.P272P

c.816G>A

1 paper

NM_004996.4

p.Q271E

c.811C>G

20 papers

NM_004996.4

p.V275V

c.825T>C

1 paper

NM_004996.4

p.V276A

c.827T>C

1 paper

NM_004996.4

p.Y277H

c.829T>C

1 paper

NM_004996.4

p.Y277F

c.830A>T

1 paper

NM_004996.4

p.S278A

c.832T>G

1 paper

NM_004996.4

p.S279A

c.835T>G

1 paper

NM_004996.4

p.D281insFs

c.841dupG

1 paper

NM_004996.4

p.K280R

c.839A>G