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.L1375M

c.4123C>A

Surrounding Variants

1 paper

NM_003786.4

p.D1372A

c.4115A>C

6 papers

NM_003786.4

p.R1381S

c.4141C>A

1 paper

NM_003786.4

p.M1382I

c.4146G>A

1 paper

NM_003786.4

p.M1382I

c.4146G>C

1 paper

NM_003786.4

p.M1382I

c.4146G>T

1 paper

NM_003786.4

p.G1388S

c.4162G>A

1 paper

NM_003786.4

p.S1389fs

c.4165_4166fs

1 paper

NM_003786.4

p.S1402S

c.4206C>G

1 paper

NM_003786.4

p.T1406M

c.4217C>T

2 papers

NM_003786.4

p.Q1411*

c.4231C>T

1 paper

NM_003786.4

p.G1422C

c.4264G>T

1 paper

NM_003786.4

p.G1422D

c.4265G>A