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

1–12 of 233 variants

13 papers

NM_001198934.2

p.I948T

c.2843T>C

4 papers

NM_001198934.2

p.N437D

c.1309A>G

3 papers

NM_001198934.2

p.P163A

c.487C>G

3 papers

NM_001198934.2

p.R261H

c.782G>A

3 papers

NM_001198934.2

p.G378R

c.1132G>A

3 papers

NM_001198934.2

p.G378R

c.1132G>C

3 papers

NM_001198934.2

p.L412L

c.1236C>T

3 papers

NM_001198934.2

p.V1116M

c.3346G>A

3 papers

NM_001198934.2

p.R1281H

c.3842G>A

2 papers

NM_001198934.2

p.M1V

c.1A>G

2 papers

NM_001198934.2

p.M1K

c.2T>A

2 papers

NM_001198934.2

p.V335M

c.1003G>A