Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A2
Variant:p.L48P

SLC39A2

58 papers

RefSeq Summary

This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid art...

Pfam Domains

Zipaa 5–306UCSCZIP Zinc transporter

Gene Aliases

HGNC Name

solute carrier family 39 member 2

HGNC Alias Symbol

ZIP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014579.4
p.L48P
c.143T>C
Surrounding Variants
4 papers
NM_014579.4
p.L43R
c.128T>G
1 paper
NM_014579.4
p.E67Q
c.199G>C
1 paper
NM_014579.4
p.E67A
c.200A>C
1 paper
NM_014579.4
p.A68A
c.204C>G
1 paper
NM_014579.4
p.E70Q
c.208G>C
1 paper
NM_014579.4
p.E70A
c.209A>C
1 paper
NM_014579.4
p.E71Q
c.211G>C
1 paper
NM_014579.4
p.E71A
c.212A>C
1 paper
NM_014579.4
p.Q82L
c.245A>T
1 paper
NM_014579.4
p.K8*
c.22A>T
1 paper
NM_014579.4
p.M1insFs
c.2dupT
1 paper
NM_014579.4
p.A86T
c.256G>A
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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."