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.R48fs

c.142_143fs

Surrounding Variants

1 paper

NM_001370497.1

p.R48delFs

c.143_144delTC

1 paper

NM_001370497.1

p.N49K

c.147T>G

1 paper

NM_001370497.1

p.N49K

c.147T>A

1 paper

NM_001370497.1

p.A52G

c.155C>G

1 paper

NM_001370497.1

p.A52D

c.155C>A

1 paper

NM_001370497.1

p.P42P

c.126C>T

2 papers

NM_001370497.1

p.P60L

c.179C>T

1 paper

NM_001370497.1

p.P60P

c.180G>A

1 paper

NM_001370497.1

p.W61*

c.182G>A

1 paper

NM_001370497.1

p.W61*

c.183G>A

1 paper

NM_001370497.1

p.D65A

c.194A>C

1 paper

NM_001370497.1

p.A67T

c.199G>A