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

12 papers

NM_000352.6

p.V560M

c.1678G>A

Surrounding Variants

1 paper

NM_000352.6

p.F559C

c.1676T>G

1 paper

NM_000352.6

p.G561G

c.1683C>T

1 paper

NM_000352.6

p.T558I

c.1673C>T

9 papers

NM_000352.6

p.H562H

c.1686C>T

4 papers

NM_000352.6

p.V563D

c.1688T>A

1 paper

NM_000352.6

p.G561_V563delFs

c.1683_1687del5

2 papers

NM_000352.6

p.I557_T558Splc

c.1672-5C>G

1 paper

NM_000352.6

p.I557_T558Splc

c.1672-9T>A

1 paper

NM_000352.6

p.E568E

c.1704G>A

2 papers

NM_000352.6

p.I557_T558Splc

c.1672-20A>T

3 papers

NM_000352.6

p.I557_T558Splc

c.1672-20A>G

1 paper

NM_000352.6

p.A569P

c.1705G>C