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

168 papers

NM_173851.3

p.R325W

c.973C>T

NM_001172815.3

p.R276W

c.826C>T

Surrounding Variants

10 papers

NM_173851.3

p.R325Q

c.974G>A

1 paper

NM_173851.3

p.S327fs

c.979_980fs

1 paper

NM_173851.3

p.V329M

c.985G>A

1 paper

NM_173851.3

p.A337V

c.1010C>T

1 paper

NM_173851.3

p.S341R

c.1023C>A

4 papers

NM_173851.3

p.I349F

c.1045A>T

1 paper

NM_173851.3

p.I349N

c.1046T>A

1 paper

NM_173851.3

p.S353F

c.1058C>T

1 paper

NM_173851.3

p.Q357*

c.1069C>T

1 paper

NM_173851.3

p.C361G

c.1081T>G

1 paper

NM_173851.3

p.C364_E365insG

c.1090_1094ins3

1 paper

NM_173851.3

p.P367P

c.1101C>G