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

6 papers

NM_003786.4

p.K13N

c.39G>C

Surrounding Variants

1 paper

NM_003786.4

p.F14insFs

c.40_41insT

5 papers

NM_003786.4

p.K13N

c.39G>T

1 paper

NM_003786.4

p.K13T

c.38A>C

2 papers

NM_003786.4

p.S12Y

c.35C>A

2 papers

NM_003786.4

p.S12F

c.35C>T

3 papers

NM_003786.4

p.G11D

c.32G>A

1 paper

NM_003786.4

p.G11S

c.31G>A

1 paper

NM_003786.4

p.S7S

c.21C>T

1 paper

NM_003786.4

p.G6D

c.17G>A

1 paper

NM_003786.4

p.M1I

c.3G>A

1 paper

NM_003786.4

p.M1I

c.3G>T

1 paper

NM_003786.4

p.W15_D16Splc

c.45+363G>A