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.N71K

c.213C>G

Surrounding Variants

1 paper

NM_004996.4

p.K72*

c.214A>T

1 paper

NM_004996.4

p.L70I

c.208C>A

1 paper

NM_004996.4

p.L70V

c.208C>G

18 papers

NM_004996.4

p.T73I

c.218C>T

1 paper

NM_004996.4

p.T73T

c.219C>T

1 paper

NM_004996.4

p.K74R

c.221A>G

3 papers

NM_004996.4

p.P69A

c.205C>G

1 paper

NM_004996.4

p.T68A

c.202A>G

1 paper

NM_004996.4

p.T75_A76Splc

c.225+5G>C

1 paper

NM_004996.4

p.I65N

c.194T>A

1 paper

NM_004996.4

p.I65_Q66insFs

c.195_196insT

1 paper

NM_004996.4

p.I65V

c.193A>G