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

2 papers

NM_000352.6

p.T588I

c.1763C>T

Surrounding Variants

7 papers

NM_000352.6

p.V587G

c.1760T>G

1 paper

NM_000352.6

p.V587D

c.1760T>A

1 paper

NM_000352.6

p.P589L

c.1766C>T

15 papers

NM_000352.6

p.F591L

c.1771T>C

6 papers

NM_000352.6

p.I585T

c.1754T>C

15 papers

NM_000352.6

p.F591L

c.1773C>G

15 papers

NM_000352.6

p.F591L

c.1773C>A

1 paper

NM_000352.6

p.I585V

c.1753A>G

1 paper

NM_000352.6

p.L592R

c.1775T>G

2 papers

NM_000352.6

p.F591delFs

c.1773delG

1 paper

NM_000352.6

p.H584_I585insA

c.1750_1754ins3

1 paper

NM_000352.6

p.L582delFs

c.1745_1746delGA