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.V176insFs

c.526dupG

Surrounding Variants

1 paper

NM_000352.6

p.V176fs

c.526_527fs

1 paper

NM_000352.6

p.L175V

c.523C>G

2 papers

NM_000352.6

p.L174insFs

c.522dupG

1 paper

NM_000352.6

p.L174P

c.521T>C

1 paper

NM_000352.6

p.L167_L174delFs

c.499_520del22

6 papers

NM_000352.6

p.Y179C

c.536A>G

1 paper

NM_000352.6

p.Y179S

c.536A>C

6 papers

NM_000352.6

p.Y179*

c.537T>G

1 paper

NM_000352.6

p.Y179Y

c.537T>C

6 papers

NM_000352.6

p.Y179*

c.537T>A

2 papers

NM_000352.6

p.G173R

c.517G>C

3 papers

NM_000352.6

p.G173R

c.517G>A