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.V970M

c.2908G>A

Surrounding Variants

1 paper

NM_001198934.2

p.T969T

c.2907C>A

1 paper

NM_001198934.2

p.Y971Y

c.2913T>C

1 paper

NM_001198934.2

p.T973S

c.2917A>T

1 paper

NM_001198934.2

p.T973S

c.2918C>G

1 paper

NM_001198934.2

p.R965C

c.2893C>T

13 papers

NM_001198934.2

p.I948T

c.2843T>C

1 paper

NM_001198934.2

p.R1002C

c.3004C>T

1 paper

NM_001198934.2

p.R1007*

c.3019C>T

1 paper

NM_001198934.2

p.Y947C

c.2840A>G

1 paper

NM_001198934.2

p.L940F

c.2818C>T

1 paper

NM_001198934.2

p.P936P

c.2808G>A

1 paper

NM_001198934.2

p.P936L

c.2807C>T