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.V97M

c.289G>A

Surrounding Variants

1 paper

NM_001370497.1

p.L95V

c.283C>G

4 papers

NM_001370497.1

p.W99*

c.296G>A

5 papers

NM_001370497.1

p.W99*

c.297G>A

1 paper

NM_001370497.1

p.P102T

c.304C>A

1 paper

NM_001370497.1

p.G90D

c.269G>A

1 paper

NM_001370497.1

p.L86L

c.258G>A

1 paper

NM_001370497.1

p.L108I

c.322T>A

2 papers

NM_001370497.1

p.R109W

c.325C>T

1 paper

NM_001370497.1

p.P81R

c.242C>G

1 paper

NM_001370497.1

p.P81A

c.241C>G

1 paper

NM_001370497.1

p.L120Q

c.359T>A

1 paper

NM_001370497.1

p.R132Splc

c.395+2T>C