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

2 papers

NM_003786.4

p.G870V

c.2609G>T

Surrounding Variants

1 paper

NM_003786.4

p.A871T

c.2611G>A

1 paper

NM_003786.4

p.E872_D873insFs

c.2616_2617insT

1 paper

NM_003786.4

p.D873fs

c.2617_2618fs

1 paper

NM_003786.4

p.D873_K874insFs

c.2619_2620insCT

1 paper

NM_003786.4

p.K874fs

c.2620_2621fs

1 paper

NM_003786.4

p.L878P

c.2633T>C

1 paper

NM_003786.4

p.L889L

c.2665C>T

1 paper

NM_003786.4

p.D893N

c.2677G>A

10 papers

NM_003786.4

p.D893Y

c.2677G>T

2 papers

NM_003786.4

p.A867Splc

c.2600-123C>T

3 papers

NM_003786.4

p.R905Splc

c.2714+29C>T

3 papers

NM_003786.4

p.Q906Q

c.2718G>A