Varaico: Literature-Extracted Genetic Variants

SLC30A8

339 papers

RefSeq Summary

The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly ...

Pfam Domains

Cation_effluxaa 74–275UCSCCation efflux transmembrane domain

ZT_dimeraa 279–354UCSCCation efflux protein, cytoplasmic domain

Gene Aliases

HGNC Name

solute carrier family 30 member 8

HGNC Alias Symbols

ZnT-8; ZNT8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_173851.3

p.K34fs

c.100_101fs

Surrounding Variants

3 papers

NM_173851.3

p.K34_Q36delFs

c.101_107del7

1 paper

NM_173851.3

p.Q36*

c.106C>T

1 paper

NM_173851.3

p.R39*

c.115A>T

1 paper

NM_173851.3

p.Q29*

c.85C>T

1 paper

NM_173851.3

p.Q28*

c.82C>T

1 paper

NM_173851.3

p.E40K

c.118G>A

1 paper

NM_173851.3

p.R41delFs

c.122delG

1 paper

NM_173851.3

p.E44K

c.130G>A

1 paper

NM_173851.3

p.E46*

c.136G>T

4 papers

NM_173851.3

p.M50I

c.150G>A

4 papers

NM_173851.3

p.M50I

c.150G>C

4 papers

NM_173851.3

p.M50I

c.150G>T