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.W40delFs

c.119delG

Surrounding Variants

1 paper

NM_004996.4

p.W40insFs

c.119_120ins5

1 paper

NM_004996.4

p.V41M

c.121G>A

2 papers

NM_004996.4

p.L38L

c.114C>T

2 papers

NM_004996.4

p.P42A

c.124C>G

1 paper

NM_004996.4

p.P42S

c.124C>T

1 paper

NM_004996.4

p.P42P

c.126T>G

20 papers

NM_004996.4

p.C43S

c.127T>A

1 paper

NM_004996.4

p.C43R

c.127T>C

1 paper

NM_004996.4

p.C43G

c.127T>G

30 papers

NM_004996.4

p.C43S

c.128G>C

1 paper

NM_004996.4

p.T36T

c.108G>C

2 papers

NM_004996.4

p.C43F

c.128G>T