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

4 papers

NM_004996.4

p.K684M

c.2051A>T

Surrounding Variants

2 papers

NM_004996.4

p.K684R

c.2051A>G

2 papers

NM_004996.4

p.K684E

c.2050A>G

1 paper

NM_004996.4

p.S685T

c.2053T>A

1 paper

NM_004996.4

p.S685A

c.2053T>G

1 paper

NM_004996.4

p.G683E

c.2048G>A

1 paper

NM_004996.4

p.A690T

c.2068G>A

1 paper

NM_004996.4

p.A690S

c.2068G>T

1 paper

NM_004996.4

p.L673L

c.2017T>C

1 paper

NM_004996.4

p.D696Y

c.2086G>T

59 papers

NM_004996.4

p.G671V

c.2012G>T

7 papers

NM_004996.4

p.P669P

c.2007C>T

1 paper

NM_004996.4

p.E699E

c.2097G>A