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.R1290W

c.3868A>T

Surrounding Variants

1 paper

NM_001370497.1

p.I1288L

c.3862A>C

1 paper

NM_001370497.1

p.R1294H

c.3881G>A

1 paper

NM_001370497.1

p.G1275_Q1284del0

c.3825_3851del27

9 papers

NM_001370497.1

p.N1277Y

c.3829A>T

1 paper

NM_001370497.1

p.P1264_K1265insFs

c.3792_3793insC

2 papers

NM_001370497.1

p.A1259_I1260Splc

c.3778-1G>A

1 paper

NM_001370497.1

p.A1259_I1260Splc

c.3777+1G>A

1 paper

NM_001370497.1

p.L1251L

c.3753G>A

1 paper

NM_001370497.1

p.L1251S

c.3752T>C

1 paper

NM_001370497.1

p.Q1246H

c.3738G>T

1 paper

NM_001370497.1

p.Q1246H

c.3738G>C

1 paper

NM_001370497.1

p.P1238A

c.3712C>G