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.G62S

c.184G>A

Surrounding Variants

1 paper

NM_003786.4

p.R61R

c.183T>G

1 paper

NM_003786.4

p.R61G

c.181C>G

2 papers

NM_003786.4

p.R61C

c.181C>T

1 paper

NM_003786.4

p.I65V

c.193A>G

1 paper

NM_003786.4

p.I65N

c.194T>A

1 paper

NM_003786.4

p.R57W

c.169C>T

6 papers

NM_003786.4

p.H68Y

c.202C>T

1 paper

NM_003786.4

p.L56L

c.166C>T

1 paper

NM_003786.4

p.Y55C

c.164A>G

1 paper

NM_003786.4

p.K71M

c.212A>T

1 paper

NM_003786.4

p.Y52H

c.154T>C

1 paper

NM_003786.4

p.P50P

c.150C>T