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.M1513I

c.4539G>A

Surrounding Variants

2 papers

NM_000352.6

p.M1513I

c.4539G>T

2 papers

NM_000352.6

p.M1513I

c.4539G>C

3 papers

NM_001287174.3

p.M1514T

c.4541T>C

NM_000352.6

p.M1513T

c.4538T>C

1 paper

NM_001287174.3

p.M1514K

c.4541T>A

1 paper

NM_001287174.3

p.E1507_D1513ins2

c.4519_4539dup21

2 papers

NM_000352.6

p.A1514A

c.4542C>A

4 papers

NM_000352.6

p.T1515A

c.4543A>G

NM_001287174.3

p.T1516A

c.4546A>G

6 papers

NM_000352.6

p.T1515M

c.4544C>T

2 papers

NM_000352.6

p.I1511S

c.4532T>G

6 papers

NM_000352.6

p.I1511T

c.4532T>C

NM_001287174.3

p.I1512T

c.4535T>C

1 paper

NM_000352.6

p.I1511N

c.4532T>A

1 paper

NM_001287174.3

p.T1516_E1517Splc

c.4548+1G>C