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.S1482R

c.4444A>C

Surrounding Variants

1 paper

NM_000352.6

p.N1480delFs

c.4440delA

1 paper

NM_000352.6

p.S1482R

c.4446C>G

1 paper

NM_000352.6

p.S1482R

c.4446C>A

1 paper

NM_000352.6

p.Q1483Q

c.4449G>A

2 papers

NM_000352.6

p.G1484R

c.4450G>C

NM_001287174.3

p.G1485R

c.4453G>C

2 papers

NM_000352.6

p.G1484R

c.4450G>A

NM_001287174.3

p.G1485R

c.4453G>A

1 paper

NM_000352.6

p.N1480D

c.4438A>G

2 papers

NM_001287174.3

p.G1485V

c.4454G>T

NM_000352.6

p.G1484V

c.4451G>T

1 paper

NM_001287174.3

p.G1485A

c.4454G>C

2 papers

NM_000352.6

p.G1484E

c.4451G>A

1 paper

NM_000352.6

p.E1479Q

c.4435G>C

5 papers

NM_000352.6

p.E1479K

c.4435G>A