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.I137S

c.410T>G

Surrounding Variants

1 paper

NM_000352.6

p.A138Splc

c.412+2T>C

2 papers

NM_000352.6

p.L135insFs

c.405dupG

1 paper

NM_000352.6

p.L136I

c.406C>A

1 paper

NM_000352.6

p.L135delFs

c.404delA

15 papers

NM_000352.6

p.L135P

c.404T>C

8 papers

NM_000352.6

p.L135V

c.403C>G

1 paper

NM_000352.6

p.K134K

c.402G>A

1 paper

NM_000352.6

p.A138Splc

c.412+7G>A

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.K134*

c.400A>T

1 paper

NM_000352.6

p.P133delFs

c.399delG