Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5
Variant:p.R120Splc

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.R120Splc
c.359+2T>C
Surrounding Variants
1 paper
NM_022902.5
p.Q91_W92Splc
c.274-1G>A
1 paper
NM_022902.5
p.L122S
c.365T>C
1 paper
NM_022902.5
p.S134L
c.401C>T
1 paper
NM_022902.5
p.S137T
c.410G>C
1 paper
NM_022902.5
p.F140fs
c.418_419fs
1 paper
NM_022902.5
p.F140delFs
c.420delC
1 paper
NM_022902.5
p.S50_Y51delFs
c.150_151delAT
1 paper
NM_022902.5
p.S50_Y51del2
c.148_152del6
1 paper
NM_022902.5
p.T39_F41del3
c.115_122del9
1 paper
NM_022902.5
p.T150_R151del2
c.448_452del6
1 paper
NM_022902.5
p.G181V
c.542G>T
1 paper
NM_022902.5
p.T193P
c.577A>C
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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."