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

21 papers

NM_004996.4

p.L562L

c.1684T>C

Surrounding Variants

1 paper

NM_004996.4

p.T564A

c.1690A>G

1 paper

NM_004996.4

p.V560M

c.1678G>A

1 paper

NM_004996.4

p.F565L

c.1693T>C

1 paper

NM_004996.4

p.F565L

c.1695T>A

1 paper

NM_004996.4

p.F565L

c.1695T>G

1 paper

NM_004996.4

p.Y568S

c.1703A>C

1 paper

NM_004996.4

p.Y568F

c.1703A>T

11 papers

NM_004996.4

p.Y568Y

c.1704C>T

1 paper

NM_004996.4

p.T570A

c.1708A>G

1 paper

NM_004996.4

p.I571delFs

c.1712delT

1 paper

NM_004996.4

p.D572N

c.1714G>A

1 paper

NM_004996.4

p.L559_V560Splc

c.1678-34G>A