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

1–12 of 987 variants

61 papers

NM_004996.4

p.A893S

c.2677G>T

59 papers

NM_004996.4

p.G671V

c.2012G>T

46 papers

NM_004996.4

p.R723Q

c.2168G>A

35 papers

NM_004996.4

p.R433S

c.1299G>T

33 papers

NM_004996.4

p.R433S

c.1299G>C

30 papers

NM_004996.4

p.C43S

c.128G>C

23 papers

NM_004996.4

p.S1334S

c.4002G>A

21 papers

NM_004996.4

p.L562L

c.1684T>C

20 papers

NM_004996.4

p.C43S

c.127T>A

20 papers

NM_004996.4

p.V275V

c.825T>C

19 papers

NM_004996.4

p.R633Q

c.1898G>A

18 papers

NM_004996.4

p.T73I

c.218C>T