Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5

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
1–12 of 59 variants
5 papers
NM_022902.5
p.I278fs
c.832_833fs
4 papers
NM_022902.5
p.H661fs
c.1981_1982fs
2 papers
NM_022902.5
p.I278_F279delFs
c.832_836del5
2 papers
NM_022902.5
p.R329W
c.985C>T
2 papers
NM_022902.5
p.L594P
c.1781T>C
2 papers
NM_022902.5
p.I633del1
c.1897_1899delATA
2 papers
NM_022902.5
p.H661delFs
c.1981_1982delCA
1 paper
NM_022902.5
p.K4R
c.11A>G
1 paper
NM_022902.5
p.Y5delFs
c.13_14delTA
1 paper
NM_022902.5
p.P13_G14del2
c.37_41del6
1 paper
NM_022902.5
p.G12V
c.35G>T
1 paper
NM_022902.5
p.P13_G14del1
c.39_41delCGG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."