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.L1208L

c.3624C>A

Surrounding Variants

4 papers

NM_005688.4

p.L1208L

c.3624C>T

1 paper

NM_005688.4

p.V1209F

c.3625G>T

1 paper

NM_005688.4

p.R1203Q

c.3608G>A

1 paper

NM_005688.4

p.Y1202*

c.3606C>A

1 paper

NM_005688.4

p.K1222Q

c.3664A>C

1 paper

NM_005688.4

p.R1228Q

c.3683G>A

1 paper

NM_005688.4

p.S1231A

c.3691T>G

1 paper

NM_005688.4

p.A1182V

c.3545C>T

1 paper

NM_005688.4

p.I1178F

c.3532A>T

1 paper

NM_005688.4

p.A1174V

c.3521C>T

1 paper

NM_005688.4

p.L1170delFs

c.3508_3509delAG

1 paper

NM_005688.4

p.K1168_T1169Splc

c.3504+2T>G