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_001287174.3

p.D1506E

c.4518C>A

NM_000352.6

p.D1505E

c.4515C>A

Surrounding Variants

1 paper

NM_000352.6

p.D1505D

c.4515C>T

2 papers

NM_001287174.3

p.D1506E

c.4518C>G

NM_000352.6

p.D1505E

c.4515C>G

2 papers

NM_000352.6

p.E1506*

c.4516G>T

NM_001287174.3

p.E1507*

c.4519G>T

6 papers

NM_000352.6

p.E1506Q

c.4516G>C

NM_001287174.3

p.E1507Q

c.4519G>C

71 papers

NM_000352.6

p.E1506K

c.4516G>A

NM_001287174.3

p.E1507K

c.4519G>A

2 papers

NM_000352.6

p.D1505H

c.4513G>C

6 papers

NM_001287174.3

p.D1506N

c.4516G>A

NM_000352.6

p.D1505N

c.4513G>A

5 papers

NM_000352.6

p.E1506G

c.4517A>G

NM_001287174.3

p.E1507G

c.4520A>G

7 papers

NM_000352.6

p.E1506D

c.4518G>T

NM_001287174.3

p.E1507D

c.4521G>T

7 papers

NM_000352.6

p.E1506D

c.4518G>C

NM_001287174.3

p.E1507D

c.4521G>C

2 papers

NM_001287174.3

p.M1505T

c.4514T>C

NM_000352.6

p.M1504T

c.4511T>C

2 papers

NM_001287174.3

p.A1508P

c.4522G>C

NM_000352.6

p.A1507P

c.4519G>C