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.P595A

c.1783C>G

Surrounding Variants

2 papers

NM_004996.4

p.F594Y

c.1781T>A

1 paper

NM_004996.4

p.F594S

c.1781T>C

1 paper

NM_004996.4

p.L596R

c.1787T>G

1 paper

NM_004996.4

p.R593L

c.1778G>T

1 paper

NM_004996.4

p.N590T

c.1769A>C

3 papers

NM_004996.4

p.N590S

c.1769A>G

1 paper

NM_004996.4

p.N590D

c.1768A>G

10 papers

NM_004996.4

p.N590Y

c.1768A>T

1 paper

NM_004996.4

p.P600A

c.1798C>G

1 paper

NM_004996.4

p.P600S

c.1798C>T

1 paper

NM_004996.4

p.L588*

c.1763T>A

1 paper

NM_004996.4

p.A587A

c.1761C>G