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

3 papers

NM_004996.4

p.G638Splc

c.1912+1G>A

Surrounding Variants

1 paper

NM_004996.4

p.G638insFs

c.1912_1913insGT

1 paper

NM_004996.4

p.D637D

c.1911C>T

19 papers

NM_004996.4

p.R633Q

c.1898G>A

1 paper

NM_004996.4

p.E626G

c.1877A>G

1 paper

NM_004996.4

p.G638Splc

c.1912+38G>A

1 paper

NM_004996.4

p.L625M

c.1873C>A

1 paper

NM_004996.4

p.E624D

c.1872G>C

1 paper

NM_004996.4

p.E624D

c.1872G>T

1 paper

NM_004996.4

p.E624A

c.1871A>C

2 papers

NM_004996.4

p.E624K

c.1870G>A

1 paper

NM_004996.4

p.S621S

c.1863C>T

1 paper

NM_004996.4

p.S621A

c.1861T>G