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

1–12 of 2446 variants

90 papers

NM_000352.6

p.A1369S

c.4105G>T

75 papers

NM_000352.6

p.V187D

c.560T>A

65 papers

NM_000352.6

p.E1506K

c.4516G>A

44 papers

NM_000352.6

p.F132L

c.394T>C

44 papers

NM_000352.6

p.F132L

c.396C>G

44 papers

NM_000352.6

p.F132L

c.396C>A

37 papers

NM_000352.6

p.A116P

c.346G>C

34 papers

NM_000352.6

p.G111R

c.331G>A

31 papers

NM_000352.6

p.N188S

c.563A>G

30 papers

NM_000352.6

p.G111R

c.331G>C

30 papers

NM_000352.6

p.R598*

c.1792C>T

29 papers

NM_000352.6

p.E128K

c.382G>A