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

44 papers

NM_000352.6

p.F132L

c.394T>C

Surrounding Variants

1 paper

NM_000352.6

p.N131ins0

c.391_393dupAAC

12 papers

NM_000352.6

p.F132V

c.394T>G

44 papers

NM_000352.6

p.F132L

c.396C>G

44 papers

NM_000352.6

p.F132L

c.396C>A

1 paper

NM_000352.6

p.N131T

c.392A>C

1 paper

NM_000352.6

p.N131D

c.391A>G

6 papers

NM_000352.6

p.P133R

c.398C>G

1 paper

NM_000352.6

p.K134*

c.400A>T

1 paper

NM_000352.6

p.P133delFs

c.399delG

1 paper

NM_000352.6

p.K134R

c.401A>G

1 paper

NM_000352.6

p.K134T

c.401A>C

1 paper

NM_000352.6

p.K134K

c.402G>A