Varaico: Literature-Extracted Genetic Variants

ABCC5

196 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

ABC_membraneaa 179–447UCSCABC transporter transmembrane region

ABC_tranaa 578–713UCSCABC transporter

ABC_membraneaa 859–1143UCSCABC transporter transmembrane region

ABC_tranaa 1210–1358UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 5

HGNC Alias Symbols

MRP5; SMRP; EST277145; MOAT-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005688.4

p.A484T

c.1450G>A

Surrounding Variants

1 paper

NM_005688.4

p.P483R

c.1448C>G

1 paper

NM_005688.4

p.P486P

c.1458T>C

1 paper

NM_005688.4

p.K489R

c.1466A>G

1 paper

NM_005688.4

p.K493K

c.1479A>G

1 paper

NM_005688.4

p.A495V

c.1484C>T

1 paper

NM_005688.4

p.A495A

c.1485C>T

1 paper

NM_005688.4

p.W499L

c.1496G>T

3 papers

NM_005688.4

p.S501Y

c.1502C>A

1 paper

NM_005688.4

p.Q507*

c.1519C>T

1 paper

NM_005688.4

p.T513A

c.1537A>G

1 paper

NM_005688.4

p.P514L

c.1541C>T

1 paper

NM_005688.4

p.D519D

c.1557C>T