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

3 papers

NM_003786.4

p.Q906Q

c.2718G>A

Surrounding Variants

1 paper

NM_003786.4

p.L910P

c.2729T>C

1 paper

NM_003786.4

p.S912*

c.2735C>A

1 paper

NM_003786.4

p.S912*

c.2735C>G

1 paper

NM_003786.4

p.Q917Q

c.2751G>A

3 papers

NM_003786.4

p.P920S

c.2758C>T

1 paper

NM_003786.4

p.P922S

c.2764C>T

5 papers

NM_003786.4

p.R923Q

c.2768G>A

1 paper

NM_003786.4

p.Q933delFs

c.2798_2799delAG

1 paper

NM_003786.4

p.A937T

c.2809G>A

1 paper

NM_003786.4

p.A937V

c.2810C>T

1 paper

NM_003786.4

p.D940Y

c.2818G>T

1 paper

NM_003786.4

p.A949E

c.2846C>A