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.H335D

c.1003C>G

Surrounding Variants

1 paper

NM_004996.4

p.H335Y

c.1003C>T

1 paper

NM_004996.4

p.H335L

c.1004A>T

1 paper

NM_004996.4

p.H335Q

c.1005C>A

1 paper

NM_004996.4

p.H335Q

c.1005C>G

1 paper

NM_004996.4

p.D336E

c.1008C>A

1 paper

NM_004996.4

p.D336E

c.1008C>G

2 papers

NM_004996.4

p.K332R

c.995A>G

1 paper

NM_004996.4

p.S341A

c.1021T>G

1 paper

NM_004996.4

p.S341F

c.1022C>T

1 paper

NM_004996.4

p.G342E

c.1025G>A

1 paper

NM_004996.4

p.M327T

c.980T>C

1 paper

NM_004996.4

p.P343A

c.1027C>G