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.K445M

c.1334A>T

Surrounding Variants

1 paper

NM_001370497.1

p.A447V

c.1340C>T

1 paper

NM_001370497.1

p.V438_L441delFs

c.1313_1322del10

1 paper

NM_001370497.1

p.S423F

c.1268C>T

1 paper

NM_001370497.1

p.A417T

c.1249G>A

1 paper

NM_001370497.1

p.L412L

c.1236C>T

1 paper

NM_001370497.1

p.S407S

c.1221C>A

1 paper

NM_001370497.1

p.W401L

c.1202G>T

1 paper

NM_001370497.1

p.S387R

c.1161T>G

1 paper

NM_001370497.1

p.S384I

c.1151G>T

1 paper

NM_001370497.1

p.G380R

c.1138G>C

1 paper

NM_001370497.1

p.G380R

c.1138G>A

2 papers

NM_001370497.1

p.K374K

c.1122A>G