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.D1471delFs

c.4412delT

Surrounding Variants

1 paper

NM_000352.6

p.A1472P

c.4414G>C

4 papers

NM_000352.6

p.A1472T

c.4414G>A

3 papers

NM_000352.6

p.D1471H

c.4411G>C

14 papers

NM_001287174.3

p.D1472N

c.4414G>A

NM_000352.6

p.D1471N

c.4411G>A

2 papers

NM_000352.6

p.D1471Splc

c.4412-2A>G

1 paper

NM_000352.6

p.D1471Splc

c.4412-13G>C

7 papers

NM_000352.6

p.D1471Splc

c.4412-13G>A

NM_001287174.3

p.D1472Splc

c.4415-13G>A

2 papers

NM_000352.6

p.G1477R

c.4429G>C

2 papers

NM_001287174.3

p.G1478G

c.4434C>T

NM_000352.6

p.G1477G

c.4431C>T

22 papers

NM_000352.6

p.G1478R

c.4432G>C

NM_001287174.3

p.G1479R

c.4435G>C

22 papers

NM_000352.6

p.G1478R

c.4432G>A

NM_001287174.3

p.G1479R

c.4435G>A

4 papers

NM_000352.6

p.G1478V

c.4433G>T