Varaico: Literature-Extracted Genetic Variants

Gene:SPIRE1
Variant:p.H80Y

SPIRE1

31 papers

RefSeq Summary

Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff ...

Pfam Domains

KINDaa 40–236UCSCKinase non-catalytic C-lobe domain

Gene Aliases

HGNC Name

spire type actin nucleation factor 1

HGNC Alias Symbols

spir-1; KIAA1135

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128626.2
p.H80Y
c.238C>T
Surrounding Variants
1 paper
NM_001128626.2
p.P110T
c.328C>A
1 paper
NM_001128626.2
p.A8V
c.23C>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."