Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5
Variant:p.L648P

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.L648P
c.1943T>C
Surrounding Variants
2 papers
NM_022902.5
p.H661delFs
c.1981_1982delCA
4 papers
NM_022902.5
p.H661fs
c.1981_1982fs
1 paper
NM_022902.5
p.I662V
c.1984A>G
2 papers
NM_022902.5
p.I633del1
c.1897_1899delATA
2 papers
NM_022902.5
p.L594P
c.1781T>C
1 paper
NM_022902.5
p.S561R
c.1683C>A
1 paper
NM_022902.5
p.S561R
c.1683C>G
1 paper
NM_022902.5
p.S561R
c.1681A>C
1 paper
NM_022902.5
p.S557*
c.1670C>A
1 paper
NM_022902.5
p.S557*
c.1670C>G
1 paper
NM_022902.5
p.S545S
c.1635C>T
1 paper
NM_022902.5
p.S675P
c.2023T>C
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."