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.Y124D

c.370T>G

Surrounding Variants

2 papers

NM_000352.6

p.Y124N

c.370T>A

2 papers

NM_000352.6

p.Y124F

c.371A>T

1 paper

NM_000352.6

p.Y123_Y124insFs

c.369_370dupCT

1 paper

NM_000352.6

p.Y123F

c.368A>T

1 paper

NM_000352.6

p.H125R

c.374A>G

18 papers

NM_000352.6

p.H125Q

c.375C>G

18 papers

NM_000352.6

p.H125Q

c.375C>A

2 papers

NM_000352.6

p.V121G

c.362T>G

1 paper

NM_000352.6

p.V121A

c.362T>C

3 papers

NM_000352.6

p.V121M

c.361G>A

1 paper

NM_000352.6

p.I127T

c.380T>C

1 paper

NM_000352.6

p.I127N

c.380T>A