Varaico: Literature-Extracted Genetic Variants

ABCC11

239 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 gen...

Pfam Domains

ABC_membraneaa 163–431UCSCABC transporter transmembrane region

ABC_tranaa 527–662UCSCABC transporter

ABC_membraneaa 806–1092UCSCABC transporter transmembrane region

ABC_tranaa 1158–1306UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 11

HGNC Alias Symbol

MRP8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001370497.1

p.G544S

c.1630G>A

Surrounding Variants

1 paper

NM_001370497.1

p.C543Y

c.1628G>A

14 papers

NM_001370497.1

p.T546M

c.1637C>T

1 paper

NM_001370497.1

p.T546K

c.1637C>A

1 paper

NM_001370497.1

p.G541A

c.1622G>C

1 paper

NM_001370497.1

p.G541E

c.1622G>A

1 paper

NM_001370497.1

p.G547W

c.1639G>T

1 paper

NM_001370497.1

p.K536_G537Splc

c.1609-14T>C

1 paper

NM_001370497.1

p.V534G

c.1601T>G

1 paper

NM_001370497.1

p.N521T

c.1562A>C

1 paper

NM_001370497.1

p.G520G

c.1560G>T

1 paper

NM_001370497.1

p.T466I

c.1397C>T

1 paper

NM_001370497.1

p.Q457fs

c.1369_1370fs