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.Y920C

c.2759A>G

Surrounding Variants

2 papers

NM_004996.4

p.Y920F

c.2759A>T

1 paper

NM_004996.4

p.S919A

c.2755T>G

1 paper

NM_004996.4

p.S918A

c.2752T>G

2 papers

NM_004996.4

p.S917A

c.2749T>G

1 paper

NM_004996.4

p.S915N

c.2744G>A

1 paper

NM_004996.4

p.L914R

c.2741T>G

2 papers

NM_004996.4

p.T931A

c.2791A>G

1 paper

NM_004996.4

p.A932T

c.2794G>A

1 paper

NM_004996.4

p.E933*

c.2797G>T

1 paper

NM_004996.4

p.Q935K

c.2803C>A

2 papers

NM_004996.4

p.A937V

c.2810C>T

1 paper

NM_004996.4

p.E938_A939insT

c.2812_2816ins3