Varaico: Literature-Extracted Genetic Variants

Gene:SPIRE1

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
1–12 of 34 variants
2 papers
NM_001128626.2
p.T471M
c.1412C>T
1 paper
NM_001128626.2
p.A8V
c.23C>T
1 paper
NM_001128626.2
p.H80Y
c.238C>T
1 paper
NM_001128626.2
p.P110T
c.328C>A
1 paper
NM_001128626.2
p.D138N
c.412G>A
1 paper
NM_001128626.2
p.D158N
c.472G>A
1 paper
NM_001128626.2
p.D185Y
c.553G>T
1 paper
NM_001128626.2
p.R194Q
c.581G>A
1 paper
NM_001128626.2
p.R197I
c.590G>T
1 paper
NM_001128626.2
p.L207insFs
c.619dupC
1 paper
NM_001128626.2
p.K285T
c.854A>C
1 paper
NM_001128626.2
p.R317I
c.950G>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."