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

1–12 of 155 variants

167 papers

NM_173851.3

p.R325W

c.973C>T

28 papers

NM_173851.3

p.R138*

c.412C>T

20 papers

NM_173851.3

p.E23K

c.67G>A

12 papers

NM_173851.3

p.K34fs

c.100_101fs

10 papers

NM_173851.3

p.R325Q

c.974G>A

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

4 papers

NM_173851.3

p.Y69F

c.206A>T

4 papers

NM_173851.3

p.G92G

c.276G>T

4 papers

NM_173851.3

p.R165C

c.493C>T

4 papers

NM_173851.3

p.Q174*

c.520C>T