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

3 papers

NM_000352.6

p.G173R

c.517G>A

Surrounding Variants

2 papers

NM_000352.6

p.G173R

c.517G>C

3 papers

NM_000352.6

p.T172fs

c.514_515fs

1 paper

NM_000352.6

p.T172fs

c.514_515fs

1 paper

NM_000352.6

p.L174P

c.521T>C

1 paper

NM_000352.6

p.L167_L174delFs

c.499_520del22

4 papers

NM_000352.6

p.L171insFs

c.512dupT

3 papers

NM_000352.6

p.L171P

c.512T>C

9 papers

NM_000352.6

p.L171F

c.511C>T

1 paper

NM_000352.6

p.L175V

c.523C>G

2 papers

NM_000352.6

p.L174insFs

c.522dupG

1 paper

NM_000352.6

p.C170S

c.509G>C

1 paper

NM_000352.6

p.C170Y

c.509G>A