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

4 papers

NM_000352.6

p.S1500R

c.4500C>G

NM_001287174.3

p.S1501R

c.4503C>G

Surrounding Variants

5 papers

NM_000352.6

p.S1500R

c.4500C>A

NM_001287174.3

p.S1501R

c.4503C>A

4 papers

NM_000352.6

p.S1500R

c.4498A>C

NM_001287174.3

p.S1501R

c.4501A>C

1 paper

NM_000352.6

p.I1501I

c.4503C>A

1 paper

NM_000352.6

p.F1502L

c.4504T>C

1 paper

NM_000352.6

p.F1502L

c.4506C>G

1 paper

NM_000352.6

p.F1502L

c.4506C>A

1 paper

NM_001287174.3

p.I1504N

c.4511T>A

1 paper

NM_000352.6

p.R1497R

c.4491G>A

2 papers

NM_001287174.3

p.M1505T

c.4514T>C

NM_000352.6

p.M1504T

c.4511T>C

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

2 papers

NM_001287174.3

p.V1497M

c.4489G>A

NM_000352.6

p.V1496M

c.4486G>A