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

2 papers

NM_000352.6

p.H105R

c.314A>G

Surrounding Variants

2 papers

NM_000352.6

p.H105P

c.314A>C

1 paper

NM_000352.6

p.H105Y

c.313C>T

1 paper

NM_000352.6

p.L104L

c.312G>C

1 paper

NM_000352.6

p.L106M

c.316C>A

1 paper

NM_000352.6

p.L104V

c.310C>G

7 papers

NM_000352.6

p.H103Y

c.307C>T

1 paper

NM_000352.6

p.Y107*

c.321C>A

1 paper

NM_000352.6

p.H102insFs

c.305_306insG

1 paper

NM_000352.6

p.P109S

c.325C>T

1 paper

NM_000352.6

p.S101S

c.303C>A

5 papers

NM_000352.6

p.S101C

c.302C>G

1 paper

NM_000352.6

p.A110T

c.328G>A