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

2 papers

NM_005688.4

p.R21G

c.61A>G

Surrounding Variants

1 paper

NM_005688.4

p.V20M

c.58G>A

1 paper

NM_005688.4

p.T26_S27delFs

c.76_80del5

2 papers

NM_005688.4

p.T29K

c.86C>A

1 paper

NM_005688.4

p.I12L

c.34A>C

1 paper

NM_005688.4

p.H30R

c.89A>G

1 paper

NM_005688.4

p.E9D

c.27G>T

1 paper

NM_005688.4

p.E9D

c.27G>C

1 paper

NM_005688.4

p.G7G

c.21A>T

1 paper

NM_005688.4

p.I4N

c.11T>A

1 paper

NM_005688.4

p.F38F

c.114C>T

1 paper

NM_005688.4

p.R39R

c.115A>C

1 paper

NM_005688.4

p.R39S

c.117G>C