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.P1339S

c.4015C>T

Surrounding Variants

3 papers

NM_000352.6

p.W1338*

c.4014G>A

3 papers

NM_000352.6

p.W1338*

c.4013G>A

1 paper

NM_000352.6

p.W1338_P1339insTT

c.4012_4016ins6

2 papers

NM_001287174.3

p.Q1342*

c.4024C>T

NM_000352.6

p.Q1341*

c.4021C>T

1 paper

NM_000352.6

p.Q1341K

c.4021C>A

4 papers

NM_000352.6

p.K1336N

c.4008G>T

3 papers

NM_000352.6

p.K1336N

c.4008G>C

1 paper

NM_000352.6

p.G1342E

c.4025G>A

1 paper

NM_000352.6

p.K1343M

c.4028A>T

1 paper

NM_000352.6

p.Q1345P

c.4034A>C

1 paper

NM_001287174.3

p.S1333*

c.3998C>A

1 paper

NM_001287174.3

p.I1347fs

c.4039_4040fs