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.G1287R

c.3859G>A

Surrounding Variants

3 papers

NM_003786.4

p.R1286G

c.3856C>G

1 paper

NM_003786.4

p.R1292Q

c.3875G>A

26 papers

NM_003786.4

p.R1297H

c.3890G>A

1 paper

NM_003786.4

p.E1275G

c.3824A>G

2 papers

NM_003786.4

p.P1300L

c.3899C>T

1 paper

NM_003786.4

p.V1273E

c.3818T>A

1 paper

NM_003786.4

p.G1301C

c.3901G>T

1 paper

NM_003786.4

p.A1270A

c.3810G>C

1 paper

NM_003786.4

p.A1270V

c.3809C>T

1 paper

NM_003786.4

p.R1307T

c.3920G>C

9 papers

NM_003786.4

p.H1314H

c.3942C>T

1 paper

NM_003786.4

p.I1321V

c.3961A>G