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.H60insFs

c.179_180insT

Surrounding Variants

1 paper

NM_004996.4

p.H60Y

c.178C>T

1 paper

NM_004996.4

p.H60_G63del0

c.179_187del9

1 paper

NM_004996.4

p.H60_I65delFs

c.179_195del17

3 papers

NM_004996.4

p.R59*

c.175C>T

4 papers

NM_004996.4

p.R62Q

c.185G>A

1 paper

NM_004996.4

p.S58P

c.172T>C

1 paper

NM_004996.4

p.L57L

c.171C>G

1 paper

NM_004996.4

p.G63S

c.187G>A

1 paper

NM_004996.4

p.I65_Q66insFs

c.195_196insT

1 paper

NM_004996.4

p.I65V

c.193A>G

1 paper

NM_004996.4

p.I65N

c.194T>A

1 paper

NM_004996.4

p.L55F

c.163C>T