Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A8
Variant:p.S182P

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.S182P
c.544T>C
Surrounding Variants
1 paper
NM_173851.3
p.S182F
c.545C>T
1 paper
NM_173851.3
p.S183delFs
c.547delA
1 paper
NM_173851.3
p.V181I
c.541G>A
1 paper
NM_173851.3
p.A185T
c.553G>A
1 paper
NM_173851.3
p.M178I
c.534G>A
1 paper
NM_173851.3
p.M178I
c.534G>C
1 paper
NM_173851.3
p.M178I
c.534G>T
1 paper
NM_173851.3
p.A187A
c.561G>A
1 paper
NM_173851.3
p.A188S
c.562G>T
4 papers
NM_173851.3
p.Q174*
c.520C>T
2 papers
NM_173851.3
p.V191Splc
c.572+1G>A
1 paper
NM_173851.3
p.V191Splc
c.572+2T>C
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