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.E422D

c.1266G>C

Surrounding Variants

1 paper

NM_004996.4

p.E422D

c.1266G>T

1 paper

NM_004996.4

p.E422A

c.1265A>C

2 papers

NM_004996.4

p.E422K

c.1264G>A

1 paper

NM_004996.4

p.G421R

c.1261G>A

1 paper

NM_004996.4

p.G421R

c.1261G>C

1 paper

NM_004996.4

p.T419ins2

c.1255_1256ins6

1 paper

NM_004996.4

p.K416R

c.1247A>G

1 paper

NM_004996.4

p.R415K

c.1244G>A

2 papers

NM_004996.4

p.D430A

c.1289A>C

2 papers

NM_004996.4

p.D430E

c.1290C>A

2 papers

NM_004996.4

p.D430E

c.1290C>G

1 paper

NM_004996.4

p.S413S

c.1239A>C