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.R1493L

c.4478G>T

Surrounding Variants

2 papers

NM_000352.6

p.R1493P

c.4478G>C

9 papers

NM_000352.6

p.R1493Q

c.4478G>A

13 papers

NM_001287174.3

p.R1494W

c.4480C>T

NM_000352.6

p.R1493W

c.4477C>T

3 papers

NM_000352.6

p.R1493G

c.4477C>G

1 paper

NM_000352.6

p.A1492G

c.4475C>G

1 paper

NM_000352.6

p.A1492delFs

c.4474delC

2 papers

NM_000352.6

p.A1492T

c.4474G>A

NM_001287174.3

p.A1493T

c.4477G>A

2 papers

NM_001287174.3

p.A1495A

c.4485C>T

NM_000352.6

p.A1494A

c.4482C>T

1 paper

NM_000352.6

p.A1492fs

c.4474_4475fs

1 paper

NM_000352.6

p.A1494delFs

c.4482delG

1 paper

NM_000352.6

p.F1495F

c.4485C>T

1 paper

NM_000352.6

p.F1495fs

c.4483_4484fs