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.D696Y

c.2086G>T

Surrounding Variants

1 paper

NM_004996.4

p.E699E

c.2097G>A

1 paper

NM_004996.4

p.E699D

c.2097G>C

1 paper

NM_004996.4

p.E699D

c.2097G>T

1 paper

NM_004996.4

p.G700R

c.2098G>A

1 paper

NM_004996.4

p.G700R

c.2098G>C

1 paper

NM_004996.4

p.G700W

c.2098G>T

1 paper

NM_004996.4

p.A690T

c.2068G>A

1 paper

NM_004996.4

p.A690S

c.2068G>T

1 paper

NM_004996.4

p.V702L

c.2104G>T

1 paper

NM_004996.4

p.S685T

c.2053T>A

1 paper

NM_004996.4

p.S685A

c.2053T>G

2 papers

NM_004996.4

p.K684R

c.2051A>G