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.R168G

c.502C>G

Surrounding Variants

19 papers

NM_000352.6

p.R168C

c.502C>T

1 paper

NM_000352.6

p.R168P

c.503G>C

1 paper

NM_000352.6

p.R168H

c.503G>A

1 paper

NM_000352.6

p.R168R

c.504C>T

1 paper

NM_000352.6

p.F169V

c.505T>G

1 paper

NM_000352.6

p.L167fs

c.499_500fs

1 paper

NM_000352.6

p.C170R

c.508T>C

1 paper

NM_000352.6

p.Q166*

c.496C>T

1 paper

NM_000352.6

p.C170S

c.509G>C

1 paper

NM_000352.6

p.C170Y

c.509G>A

1 paper

NM_000352.6

p.S165S

c.495G>A

1 paper

NM_000352.6

p.S165L

c.494C>T