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.G1351G

c.4053C>T

Surrounding Variants

1 paper

NM_003786.4

p.R1348H

c.4043G>A

8 papers

NM_003786.4

p.R1348C

c.4042C>T

1 paper

NM_003786.4

p.K1344E

c.4030A>G

1 paper

NM_003786.4

p.A1343delFs

c.4029delA

1 paper

NM_003786.4

p.A1343fs

c.4027_4028fs

3 papers

NM_003786.4

p.L1362V

c.4084C>G

4 papers

NM_003786.4

p.Q1365R

c.4094A>G

1 paper

NM_003786.4

p.R1338S

c.4012C>A

2 papers

NM_003786.4

p.R1338C

c.4012C>T

3 papers

NM_003786.4

p.L1336L

c.4008G>A

1 paper

NM_003786.4

p.C1335_R1338del4

c.4003_4013del12

4 papers

NM_003786.4

p.R1324R

c.3972C>T