Varaico: Literature-Extracted Genetic Variants

ABCC8

1,351 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 298–589UCSCABC transporter transmembrane region

ABC_tranaa 695–856UCSCABC transporter

ABC_membraneaa 1012–1294UCSCABC transporter transmembrane region

ABC_tranaa 1361–1509UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 8

HGNC Previous Symbols

SUR; HRINS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000352.6

p.I152fs

c.454_455fs

Surrounding Variants

1 paper

NM_000352.6

p.T151del1

c.451_452delGGT

2 papers

NM_000352.6

p.T151delFs

c.453delG

2 papers

NM_000352.6

p.F154C

c.461T>G

1 paper

NM_000352.6

p.F154L

c.462T>G

1 paper

NM_000352.6

p.V155F

c.463G>T

1 paper

NM_000352.6

p.V155L

c.463G>C

1 paper

NM_000352.6

p.V155I

c.463G>A

1 paper

NM_000352.6

p.K150M

c.449A>T

1 paper

NM_000352.6

p.K156E

c.466A>G

1 paper

NM_000352.6

p.T149S

c.445A>T

2 papers

NM_000352.6

p.I148T

c.443T>C

1 paper

NM_000352.6

p.F157C

c.470T>G