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

37 papers

NM_000352.6

p.A116P

c.346G>C

Surrounding Variants

3 papers

NM_000352.6

p.M115V

c.343A>G

2 papers

NM_000352.6

p.A117V

c.350C>T

1 paper

NM_000352.6

p.F114S

c.341T>C

1 paper

NM_000352.6

p.A117A

c.351T>A

1 paper

NM_000352.6

p.A117_V118del1

c.350_352delCAG

6 papers

NM_000352.6

p.A113V

c.338C>T

3 papers

NM_000352.6

p.V118V

c.354C>T

1 paper

NM_000352.6

p.A113E

c.338C>A

1 paper

NM_000352.6

p.A113S

c.337G>T

8 papers

NM_000352.6

p.T119S

c.355A>T

2 papers

NM_000352.6

p.T119delFs

c.356delG

1 paper

NM_000352.6

p.S120C

c.359C>G