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.S594S

c.1782C>G

Surrounding Variants

1 paper

NM_000352.6

p.S595R

c.1783A>C

2 papers

NM_000352.6

p.S594P

c.1780T>C

1 paper

NM_000352.6

p.S595R

c.1785T>G

1 paper

NM_000352.6

p.S595R

c.1785T>A

1 paper

NM_000352.6

p.L592R

c.1775T>G

2 papers

NM_000352.6

p.F591delFs

c.1773delG

15 papers

NM_000352.6

p.F591L

c.1773C>G

15 papers

NM_000352.6

p.F591L

c.1773C>A

30 papers

NM_000352.6

p.R598*

c.1792C>T

15 papers

NM_000352.6

p.F591L

c.1771T>C

1 paper

NM_000352.6

p.R598L

c.1793G>T

3 papers

NM_000352.6

p.R598Q

c.1793G>A