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

9 papers

NM_004996.4

p.K1333M

c.3998A>T

Surrounding Variants

1 paper

NM_004996.4

p.K1333R

c.3998A>G

2 papers

NM_004996.4

p.K1333E

c.3997A>G

2 papers

NM_004996.4

p.S1334T

c.4000T>A

2 papers

NM_004996.4

p.S1334A

c.4000T>G

23 papers

NM_004996.4

p.S1334S

c.4002G>A

1 paper

NM_004996.4

p.L1336L

c.4006C>T

7 papers

NM_004996.4

p.T1337A

c.4009A>G

1 paper

NM_004996.4

p.T1329M

c.3986C>T

1 paper

NM_004996.4

p.V1326M

c.3976G>A

9 papers

NM_004996.4

p.G1324G

c.3972C>T

1 paper

NM_004996.4

p.G1324D

c.3971G>A

1 paper

NM_004996.4

p.N1344D

c.4030A>G