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.A569P

c.1705G>C

Surrounding Variants

1 paper

NM_000352.6

p.E568E

c.1704G>A

4 papers

NM_000352.6

p.A569A

c.1707C>T

1 paper

NM_000352.6

p.F571I

c.1711T>A

1 paper

NM_000352.6

p.S572S

c.1716G>A

4 papers

NM_000352.6

p.V563D

c.1688T>A

1 paper

NM_000352.6

p.G561_V563delFs

c.1683_1687del5

1 paper

NM_000352.6

p.V575M

c.1723G>A

9 papers

NM_000352.6

p.H562H

c.1686C>T

1 paper

NM_000352.6

p.G561G

c.1683C>T

6 papers

NM_000352.6

p.F577L

c.1729T>C

6 papers

NM_000352.6

p.F577L

c.1731T>G

6 papers

NM_000352.6

p.F577L

c.1731T>A