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.Y107*

c.321C>A

Surrounding Variants

1 paper

NM_000352.6

p.P109S

c.325C>T

1 paper

NM_000352.6

p.L106M

c.316C>A

1 paper

NM_000352.6

p.A110T

c.328G>A

2 papers

NM_000352.6

p.H105R

c.314A>G

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

7 papers

NM_000352.6

p.A110A

c.330C>T

1 paper

NM_000352.6

p.G111W

c.331G>T

30 papers

NM_000352.6

p.G111R

c.331G>C

34 papers

NM_000352.6

p.G111R

c.331G>A

1 paper

NM_000352.6

p.L104V

c.310C>G