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

33 papers

NM_004996.4

p.R433S

c.1299G>C

Surrounding Variants

1 paper

NM_004996.4

p.R433R

c.1299G>A

35 papers

NM_004996.4

p.R433S

c.1299G>T

1 paper

NM_004996.4

p.F434Y

c.1301T>A

1 paper

NM_004996.4

p.F434F

c.1302C>T

1 paper

NM_004996.4

p.Q432L

c.1295A>T

1 paper

NM_004996.4

p.Q432E

c.1294C>G

2 papers

NM_004996.4

p.D430E

c.1290C>A

1 paper

NM_004996.4

p.D436E

c.1308C>A

2 papers

NM_004996.4

p.D430E

c.1290C>G

1 paper

NM_004996.4

p.D436E

c.1308C>G

2 papers

NM_004996.4

p.D430A

c.1289A>C

1 paper

NM_004996.4

p.A438V

c.1313C>T