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

9 papers

NM_001370497.1

p.H1344R

c.4031A>G

Surrounding Variants

1 paper

NM_001370497.1

p.D1343E

c.4029C>A

1 paper

NM_001370497.1

p.G1349D

c.4046G>A

2 papers

NM_001370497.1

p.G1351R

c.4051G>C

2 papers

NM_001370497.1

p.G1351R

c.4051G>A

1 paper

NM_001370497.1

p.V1329V

c.3987G>A

1 paper

NM_001370497.1

p.Q1325H

c.3975G>T

1 paper

NM_001370497.1

p.Q1325H

c.3975G>C

1 paper

NM_001370497.1

p.Q1325E

c.3973C>G

1 paper

NM_001370497.1

p.F1324F

c.3972C>T

1 paper

NM_001370497.1

p.F1324fs

c.3970_3971fs

1 paper

NM_001370497.1

p.D1313_E1322del10

c.3937_3965del30

1 paper

NM_001370497.1

p.D1313_E1322del0

c.3939_3965del27