Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5
Variant:p.K295del1

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.K295del1
c.883_884delAAA
Surrounding Variants
1 paper
NM_022902.5
p.S290F
c.869C>T
1 paper
NM_022902.5
p.V288M
c.862G>A
1 paper
NM_022902.5
p.R303H
c.908G>A
1 paper
NM_022902.5
p.V281fs
c.841_842fs
5 papers
NM_022902.5
p.I278fs
c.832_833fs
2 papers
NM_022902.5
p.I278_F279delFs
c.832_836del5
1 paper
NM_022902.5
p.T321A
c.961A>G
2 papers
NM_022902.5
p.R329W
c.985C>T
1 paper
NM_022902.5
p.A335E
c.1004C>A
1 paper
NM_022902.5
p.V343I
c.1027G>A
1 paper
NM_022902.5
p.I353_F354insFs
c.1059_1060insG
1 paper
NM_022902.5
p.M388I
c.1164G>A
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