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.E128A

c.383A>C

Surrounding Variants

1 paper

NM_000352.6

p.E128D

c.384G>T

1 paper

NM_000352.6

p.E128*

c.382G>T

1 paper

NM_000352.6

p.E128D

c.384G>C

1 paper

NM_000352.6

p.E128Q

c.382G>C

29 papers

NM_000352.6

p.E128K

c.382G>A

1 paper

NM_000352.6

p.I127T

c.380T>C

1 paper

NM_000352.6

p.I127N

c.380T>A

18 papers

NM_000352.6

p.H125Q

c.375C>G

18 papers

NM_000352.6

p.H125Q

c.375C>A

1 paper

NM_000352.6

p.N131D

c.391A>G

1 paper

NM_000352.6

p.H125R

c.374A>G

1 paper

NM_000352.6

p.N131T

c.392A>C