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.G354W

c.1060G>T

Surrounding Variants

1 paper

NM_003786.4

p.A353T

c.1057G>A

1 paper

NM_003786.4

p.V352V

c.1056G>A

1 paper

NM_003786.4

p.L355R

c.1064T>G

1 paper

NM_003786.4

p.V352E

c.1055T>A

1 paper

NM_003786.4

p.F357fs

c.1069_1070fs

1 paper

NM_003786.4

p.F357delFs

c.1071delC

1 paper

NM_003786.4

p.L358L

c.1072C>T

1 paper

NM_003786.4

p.S360S

c.1080C>G

1 paper

NM_003786.4

p.M361V

c.1081A>G

1 paper

NM_003786.4

p.W347R

c.1039T>A

1 paper

NM_003786.4

p.W347R

c.1039T>C

1 paper

NM_003786.4

p.S346C

c.1037C>G