Varaico: Literature-Extracted Genetic Variants

ABCC10

165 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 285–551UCSCABC transporter transmembrane region

ABC_tranaa 618–754UCSCABC transporter

ABC_membraneaa 885–1198UCSCABC transporter transmembrane region

ABC_tranaa 1263–1410UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 10

HGNC Alias Symbols

EST182763; MRP7; SIMRP7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001198934.2

p.Y416F

c.1247A>T

Surrounding Variants

2 papers

NM_001198934.2

p.Y416*

c.1248C>A

2 papers

NM_001198934.2

p.Y416*

c.1248C>G

1 paper

NM_001198934.2

p.Y416D

c.1246T>G

1 paper

NM_001198934.2

p.Y413D

c.1237T>G

3 papers

NM_001198934.2

p.L412L

c.1236C>T

1 paper

NM_001198934.2

p.P405L

c.1214C>T

1 paper

NM_001198934.2

p.A430T

c.1288G>A

4 papers

NM_001198934.2

p.N437D

c.1309A>G

1 paper

NM_001198934.2

p.R390W

c.1168C>T

1 paper

NM_001198934.2

p.E389D

c.1167A>T

1 paper

NM_001198934.2

p.R443C

c.1327C>T

1 paper

NM_001198934.2

p.M445V

c.1333A>G