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.S830R

c.2490C>G

Surrounding Variants

1 paper

NM_004996.4

p.M829V

c.2485A>G

1 paper

NM_004996.4

p.H827L

c.2480A>T

1 paper

NM_004996.4

p.H827D

c.2479C>G

1 paper

NM_004996.4

p.D836Y

c.2506G>T

2 papers

NM_004996.4

p.V825I

c.2473G>A

1 paper

NM_004996.4

p.V837I

c.2509G>A

3 papers

NM_004996.4

p.I838V

c.2512A>G

3 papers

NM_004996.4

p.G844S

c.2530G>A

1 paper

NM_004996.4

p.S847C

c.2540C>G

2 papers

NM_004996.4

p.E848delFs

c.2542delG

1 paper

NM_004996.4

p.K820_T821Splc

c.2461-27G>A

1 paper

NM_004996.4

p.M849R

c.2546T>G