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

1–12 of 486 variants

26 papers

NM_003786.4

p.R1297H

c.3890G>A

10 papers

NM_003786.4

p.S346F

c.1037C>T

10 papers

NM_003786.4

p.D893Y

c.2677G>T

9 papers

NM_003786.4

p.H1314H

c.3942C>T

8 papers

NM_003786.4

p.G1013G

c.3039C>T

8 papers

NM_003786.4

p.R1348C

c.4042C>T

8 papers

NM_003786.4

p.G1423R

c.4267G>A

8 papers

NM_003786.4

p.G1423R

c.4267G>C

7 papers

NM_003786.4

p.L412L

c.1236C>T

7 papers

NM_003786.4

p.E1503E

c.4509A>G

6 papers

NM_003786.4

p.K13N

c.39G>C

6 papers

NM_003786.4

p.H68Y

c.202C>T