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

7 papers

NM_003786.4

p.L412L

c.1236C>T

Surrounding Variants

1 paper

NM_003786.4

p.V410F

c.1228G>T

1 paper

NM_003786.4

p.D416H

c.1246G>C

4 papers

NM_003786.4

p.E408G

c.1223A>G

4 papers

NM_003786.4

p.A417T

c.1249G>A

1 paper

NM_003786.4

p.E408K

c.1222G>A

1 paper

NM_003786.4

p.G407G

c.1221G>A

1 paper

NM_003786.4

p.R419P

c.1256G>C

1 paper

NM_003786.4

p.T405I

c.1214C>T

2 papers

NM_003786.4

p.M421L

c.1261A>C

2 papers

NM_003786.4

p.M421L

c.1261A>T

1 paper

NM_003786.4

p.D422N

c.1264G>A

1 paper

NM_003786.4

p.F426L

c.1276T>C