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

1–12 of 259 variants

72 papers

NM_001370497.1

p.G180R

c.538G>A

52 papers

NM_001370497.1

p.G180R

c.538G>C

14 papers

NM_001370497.1

p.T546M

c.1637C>T

9 papers

NM_001370497.1

p.N1277Y

c.3829A>T

9 papers

NM_001370497.1

p.H1344R

c.4031A>G

8 papers

NM_001370497.1

p.R19H

c.56G>A

8 papers

NM_001370497.1

p.A317E

c.950C>A

8 papers

NM_001370497.1

p.V648I

c.1942G>A

5 papers

NM_001370497.1

p.W99*

c.297G>A

4 papers

NM_001370497.1

p.W99*

c.296G>A

4 papers

NM_001370497.1

p.R630W

c.1888C>T

3 papers

NM_001370497.1

p.P279L

c.836C>T