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.R191W

c.571A>T

Surrounding Variants

3 papers

NM_000352.6

p.R191K

c.572G>A

1 paper

NM_000352.6

p.R191S

c.573G>T

1 paper

NM_000352.6

p.R191S

c.573G>C

1 paper

NM_000352.6

p.R193S

c.579G>T

31 papers

NM_000352.6

p.N188S

c.563A>G

75 papers

NM_000352.6

p.V187D

c.560T>A

1 paper

NM_000352.6

p.M181_V187delFs

c.543_559del17

2 papers

NM_000352.6

p.E186D

c.558G>T

2 papers

NM_000352.6

p.E186D

c.558G>C

1 paper

NM_000352.6

p.R193_R194Splc

c.579+5G>A

2 papers

NM_000352.6

p.V185fs

c.553_554fs

2 papers

NM_000352.6

p.V185delFs

c.554delA