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.I162F

c.484A>T

Surrounding Variants

1 paper

NM_000352.6

p.A161insFs

c.483dupC

1 paper

NM_000352.6

p.I162I

c.486C>T

1 paper

NM_000352.6

p.A161S

c.481G>T

3 papers

NM_000352.6

p.A161T

c.481G>A

2 papers

NM_000352.6

p.G163S

c.487G>A

1 paper

NM_000352.6

p.H160Q

c.480C>G

1 paper

NM_000352.6

p.D159D

c.477C>T

1 paper

NM_000352.6

p.A161_F164del0

c.481_492del12

1 paper

NM_000352.6

p.S165L

c.494C>T

1 paper

NM_000352.6

p.S165S

c.495G>A

1 paper

NM_000352.6

p.Q166*

c.496C>T

1 paper

NM_000352.6

p.F157C

c.470T>G