Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A5
Variant:p.E49K

SLC39A5

83 papers

RefSeq Summary

The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is a...

Pfam Domains

Zipaa 210–527UCSCZIP Zinc transporter

Gene Aliases

HGNC Name

solute carrier family 39 member 5

HGNC Alias Symbol

ZIP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_173596.3
p.E49K
c.145G>A
Surrounding Variants
1 paper
NM_173596.3
p.N50D
c.148A>G
12 papers
NM_173596.3
p.Y47*
c.141C>A
1 paper
NM_173596.3
p.Y47_G48insFs
c.141_142insA
12 papers
NM_173596.3
p.Y47*
c.141C>G
1 paper
NM_173596.3
p.Y47_E49Fs
c.141_147delinsATGCCAAACFs
1 paper
NM_173596.3
p.L53L
c.157C>T
1 paper
NM_173596.3
p.F44L
c.132T>A
1 paper
NM_173596.3
p.F44L
c.132T>G
1 paper
NM_173596.3
p.F44L
c.130T>C
1 paper
NM_173596.3
p.A55V
c.164C>T
1 paper
NM_173596.3
p.Y39S
c.116A>C
1 paper
NM_173596.3
p.R60W
c.178C>T
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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."