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

93 papers

NM_000352.6

p.A1369S

c.4105G>T

NM_001287174.3

p.A1370S

c.4108G>T

Surrounding Variants

2 papers

NM_000352.6

p.I1368delFs

c.4104delG

1 paper

NM_000352.6

p.I1368I

c.4104C>T

1 paper

NM_000352.6

p.I1368M

c.4104C>G

1 paper

NM_000352.6

p.I1368T

c.4103T>C

2 papers

NM_000352.6

p.P1370T

c.4108C>A

1 paper

NM_000352.6

p.P1370L

c.4109C>T

1 paper

NM_000352.6

p.P1370P

c.4110T>G

1 paper

NM_000352.6

p.G1371fs

c.4111_4112fs

1 paper

NM_000352.6

p.G1371delFs

c.4111delC

5 papers

NM_000352.6

p.A1366T

c.4096G>A

2 papers

NM_001287174.3

p.Q1373*

c.4117C>T

NM_000352.6

p.Q1372*

c.4114C>T

2 papers

NM_000352.6

p.K1373_I1374Splc

c.4119+1G>A