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

1 paper

NM_173851.3

p.R138L

c.413G>T

Surrounding Variants

1 paper

NM_173851.3

p.R138Q

c.413G>A

28 papers

NM_173851.3

p.R138*

c.412C>T

1 paper

NM_173851.3

p.H137P

c.410A>C

1 paper

NM_173851.3

p.A139A

c.417A>T

1 paper

NM_173851.3

p.H137Y

c.409C>T

1 paper

NM_173851.3

p.E140A

c.419A>C

1 paper

NM_173851.3

p.E140Splc

c.418+1G>T

1 paper

NM_173851.3

p.W136G

c.406T>G

1 paper

NM_173851.3

p.F134C

c.401T>G

1 paper

NM_173851.3

p.F134I

c.400T>A

1 paper

NM_173851.3

p.L118P

c.353T>C

1 paper

NM_173851.3

p.L115P

c.344T>C