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.I752L

c.2254A>C

Surrounding Variants

1 paper

NM_004996.4

p.P754delFs

c.2260delC

1 paper

NM_004996.4

p.G756G

c.2268G>A

2 papers

NM_004996.4

p.D757N

c.2269G>A

1 paper

NM_004996.4

p.R758W

c.2272C>T

1 paper

NM_004996.4

p.A743V

c.2228C>T

1 paper

NM_004996.4

p.I761F

c.2281A>T

1 paper

NM_004996.4

p.A743T

c.2227G>A

1 paper

NM_004996.4

p.Q742K

c.2224C>A

1 paper

NM_004996.4

p.V740M

c.2218G>A

1 paper

NM_004996.4

p.S739S

c.2217C>T

1 paper

NM_004996.4

p.L732Q

c.2195T>A

1 paper

NM_004996.4

p.C730S

c.2188T>A