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.S1073F

c.3218C>T

Surrounding Variants

1 paper

NM_003786.4

p.A1084V

c.3251C>T

1 paper

NM_003786.4

p.L1044*

c.3131T>A

1 paper

NM_003786.4

p.V1114D

c.3341T>A

1 paper

NM_003786.4

p.P1117S

c.3349C>T

1 paper

NM_003786.4

p.L1028R

c.3083T>G

1 paper

NM_003786.4

p.G1023V

c.3068G>T

1 paper

NM_003786.4

p.Q1126_R1127Splc

c.3378+47G>A

1 paper

NM_003786.4

p.G1023Splc

c.3067+71C>T

1 paper

NM_003786.4

p.G1023V

c.3068G>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.A1016V

c.3047C>T