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.V141L

c.421G>C

Surrounding Variants

1 paper

NM_000352.6

p.V141L

c.421G>T

1 paper

NM_000352.6

p.V141M

c.421G>A

5 papers

NM_000352.6

p.V141V

c.423G>A

1 paper

NM_000352.6

p.Y142N

c.424T>A

1 paper

NM_000352.6

p.Y142F

c.425A>T

1 paper

NM_000352.6

p.L139P

c.416T>C

1 paper

NM_000352.6

p.L139delFs

c.415delG

3 papers

NM_000352.6

p.W143R

c.427T>C

2 papers

NM_000352.6

p.W143R

c.427T>A

1 paper

NM_000352.6

p.L139fs

c.415_416fs

1 paper

NM_000352.6

p.L139V

c.415C>G

5 papers

NM_000352.6

p.W143*

c.428G>A