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.S120C

c.359C>G

Surrounding Variants

2 papers

NM_000352.6

p.T119delFs

c.356delG

1 paper

NM_000352.6

p.S120S

c.360C>T

3 papers

NM_000352.6

p.V121M

c.361G>A

2 papers

NM_000352.6

p.V121G

c.362T>G

1 paper

NM_000352.6

p.V121A

c.362T>C

8 papers

NM_000352.6

p.T119S

c.355A>T

3 papers

NM_000352.6

p.V118V

c.354C>T

1 paper

NM_000352.6

p.A117_V118del1

c.350_352delCAG

1 paper

NM_000352.6

p.A117A

c.351T>A

2 papers

NM_000352.6

p.A117V

c.350C>T

1 paper

NM_000352.6

p.Y123F

c.368A>T

2 papers

NM_000352.6

p.Y124D

c.370T>G