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

4 papers

NM_000352.6

p.Q1347H

c.4041G>T

Surrounding Variants

4 papers

NM_000352.6

p.Q1347H

c.4041G>C

1 paper

NM_000352.6

p.Q1347*

c.4039C>T

1 paper

NM_000352.6

p.L1349Q

c.4046T>A

1 paper

NM_000352.6

p.Q1347_L1349del0

c.4040_4045del6

1 paper

NM_001287174.3

p.I1347fs

c.4039_4040fs

2 papers

NM_001287174.3

p.I1347F

c.4039A>T

1 paper

NM_001287174.3

p.Q1346delFs

c.4038delC

1 paper

NM_000352.6

p.Q1345P

c.4034A>C

1 paper

NM_000352.6

p.V1351M

c.4051G>A

3 papers

NM_000352.6

p.R1352C

c.4054C>T

1 paper

NM_000352.6

p.K1343M

c.4028A>T

3 papers

NM_000352.6

p.R1352P

c.4055G>C