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.A1016T

c.3046G>A

Surrounding Variants

1 paper

NM_003786.4

p.A1016V

c.3047C>T

8 papers

NM_003786.4

p.G1013G

c.3039C>T

1 paper

NM_003786.4

p.G1019R

c.3055G>A

1 paper

NM_003786.4

p.G1019R

c.3055G>C

1 paper

NM_003786.4

p.G1023V

c.3068G>T

1 paper

NM_003786.4

p.S1003G

c.3007A>G

3 papers

NM_003786.4

p.A999T

c.2995G>A

1 paper

NM_003786.4

p.G987V

c.2960G>T

1 paper

NM_003786.4

p.G1023Splc

c.3067+71C>T

1 paper

NM_003786.4

p.A983V

c.2948C>T

1 paper

NM_003786.4

p.S982C

c.2944A>T

1 paper

NM_003786.4

p.D961G

c.2882A>G