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.T884M

c.2651C>T

Surrounding Variants

1 paper

NM_004996.4

p.V883I

c.2647G>A

1 paper

NM_004996.4

p.V886I

c.2656G>A

4 papers

NM_004996.4

p.P889S

c.2665C>T

9 papers

NM_004996.4

p.A893T

c.2677G>A

2 papers

NM_004996.4

p.A893P

c.2677G>C

61 papers

NM_004996.4

p.A893S

c.2677G>T

1 paper

NM_004996.4

p.N898N

c.2694T>C

1 paper

NM_004996.4

p.R912Splc

c.2735+11G>A

2 papers

NM_004996.4

p.R912Splc

c.2736-925G>A

1 paper

NM_004996.4

p.G882Splc

c.2645-3919G>A

1 paper

NM_004996.4

p.L914R

c.2741T>G

1 paper

NM_004996.4

p.S915N

c.2744G>A