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.A668G

c.2003C>G

Surrounding Variants

1 paper

NM_005688.4

p.P665L

c.1994C>T

1 paper

NM_005688.4

p.S672G

c.2014A>G

1 paper

NM_005688.4

p.S673R

c.2017A>C

1 paper

NM_005688.4

p.S673R

c.2019C>G

1 paper

NM_005688.4

p.S673R

c.2019C>A

1 paper

NM_005688.4

p.D674G

c.2021A>G

1 paper

NM_005688.4

p.C662R

c.1984T>C

1 paper

NM_005688.4

p.E677K

c.2029G>A

2 papers

NM_005688.4

p.E677_I678Splc

c.2031+1G>A

1 paper

NM_005688.4

p.Y654H

c.1960T>C

1 paper

NM_005688.4

p.E651D

c.1953A>T

1 paper

NM_005688.4

p.E651D

c.1953A>C