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.N719T

c.2156A>C

Surrounding Variants

1 paper

NM_004996.4

p.Q718_N719delins

c.2154_2155delinsTT

1 paper

NM_004996.4

p.Q718L

c.2153A>T

46 papers

NM_004996.4

p.R723Q

c.2168G>A

1 paper

NM_004996.4

p.E724*

c.2170G>T

1 paper

NM_004996.4

p.Q713L

c.2138A>T

1 paper

NM_004996.4

p.I726_L727ins10

c.2176_2180ins30

1 paper

NM_004996.4

p.P712delFs

c.2134delC

1 paper

NM_004996.4

p.C730S

c.2188T>A

1 paper

NM_004996.4

p.V708L

c.2122G>C

1 paper

NM_004996.4

p.V708L

c.2122G>T

1 paper

NM_004996.4

p.L732Q

c.2195T>A

1 paper

NM_004996.4

p.S739S

c.2217C>T