Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5
Variant:p.P13_G14del2

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.P13_G14del2
c.37_41del6
Surrounding Variants
1 paper
NM_022902.5
p.G12V
c.35G>T
1 paper
NM_022902.5
p.P13_G14del1
c.39_41delCGG
1 paper
NM_022902.5
p.G17delFs
c.50_51delGC
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.D23H
c.67G>C
1 paper
NM_022902.5
p.T39_F41del3
c.115_122del9
1 paper
NM_022902.5
p.S50_Y51del2
c.148_152del6
1 paper
NM_022902.5
p.S50_Y51delFs
c.150_151delAT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."