Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5
Variant:p.T193P

SLC30A5

47 papers

RefSeq Summary

This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded prot...

Pfam Domains

Cation_effluxaa 419–649UCSCCation efflux transmembrane domain

Gene Aliases

HGNC Name

solute carrier family 30 member 5

HGNC Alias Symbols

ZTL1; ZnT-5; FLJ12496; FLJ12756; ZNT5; MGC5499; ZNTL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022902.5
p.T193P
c.577A>C
Surrounding Variants
1 paper
NM_022902.5
p.G181V
c.542G>T
1 paper
NM_022902.5
p.D230N
c.688G>A
1 paper
NM_022902.5
p.V255I
c.763G>A
1 paper
NM_022902.5
p.T150_R151del2
c.448_452del6
2 papers
NM_022902.5
p.I278_F279delFs
c.832_836del5
5 papers
NM_022902.5
p.I278fs
c.832_833fs
1 paper
NM_022902.5
p.V281fs
c.841_842fs
1 paper
NM_022902.5
p.V288M
c.862G>A
1 paper
NM_022902.5
p.S290F
c.869C>T
1 paper
NM_022902.5
p.K295del1
c.883_884delAAA
1 paper
NM_022902.5
p.R303H
c.908G>A
1 paper
NM_022902.5
p.T321A
c.961A>G
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