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.T1515_E1516Splc

c.4545+5G>C

Surrounding Variants

1 paper

NM_000352.6

p.T1515_E1516Splc

c.4545+2T>C

1 paper

NM_000352.6

p.T1515_E1516Splc

c.4545+9T>C

1 paper

NM_001287174.3

p.T1516_E1517Splc

c.4548+1G>C

1 paper

NM_000352.6

p.T1515_E1516Splc

c.4545+1G>A

6 papers

NM_000352.6

p.T1515M

c.4544C>T

4 papers

NM_000352.6

p.T1515A

c.4543A>G

NM_001287174.3

p.T1516A

c.4546A>G

1 paper

NM_000352.6

p.T1515_E1516Splc

c.4545+13C>T

2 papers

NM_000352.6

p.A1514A

c.4542C>A

2 papers

NM_000352.6

p.M1513I

c.4539G>T

2 papers

NM_000352.6

p.M1513I

c.4539G>C

2 papers

NM_000352.6

p.M1513I

c.4539G>A

3 papers

NM_001287174.3

p.M1514T

c.4541T>C

NM_000352.6

p.M1513T

c.4538T>C