Varaico: Literature-Extracted Genetic Variants

ABCC3

325 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

TMD0_ABCaa 5–169UCSCABC transporter TMD0 domain

ABC_membraneaa 311–582UCSCABC transporter transmembrane region

ABC_tranaa 644–779UCSCABC transporter

ABC_membraneaa 971–1240UCSCABC transporter transmembrane region

ABC_tranaa 1306–1454UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 3

HGNC Alias Symbols

MRP3; cMOAT2; EST90757; MLP2; MOAT-D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003786.4

p.R1483Q

c.4448G>A

Surrounding Variants

2 papers

NM_003786.4

p.R1483W

c.4447C>T

1 paper

NM_003786.4

p.I1487M

c.4461C>G

1 paper

NM_003786.4

p.C1475S

c.4424G>C

1 paper

NM_003786.4

p.C1475S

c.4423T>A

3 papers

NM_003786.4

p.T1470A

c.4408A>G

1 paper

NM_003786.4

p.R1469H

c.4406G>A

1 paper

NM_003786.4

p.R1469C

c.4405C>T

1 paper

NM_003786.4

p.E1451Q

c.4351G>C

1 paper

NM_003786.4

p.R1445H

c.4334G>A

1 paper

NM_003786.4

p.Q1432H

c.4296G>C

1 paper

NM_003786.4

p.Q1432H

c.4296G>T

1 paper

NM_003786.4

p.V1428M

c.4282G>A