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

4 papers

NM_000352.6

p.V601I

c.1801G>A

Surrounding Variants

1 paper

NM_000352.6

p.T600S

c.1798A>T

1 paper

NM_000352.6

p.L590_K602del13

c.1768_1805del39

1 paper

NM_000352.6

p.R598L

c.1793G>T

3 papers

NM_000352.6

p.R598Q

c.1793G>A

30 papers

NM_000352.6

p.R598*

c.1792C>T

2 papers

NM_000352.6

p.L604fs

c.1810_1811fs

2 papers

NM_000352.6

p.L604insFs

c.1810dupC

1 paper

NM_000352.6

p.L604P

c.1811T>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.S606N

c.1817G>A

1 paper

NM_000352.6

p.S606Splc

c.1817+1G>T