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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPIRE1

Variant:p.T471M

SPIRE1

18p11.21 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr18:12464951 G>A

NM_001128626.2

p.T471M

c.1412C>T

Exome: 0.1% (AC=1155, hom=1)Genome: 0.0% (AC=42, hom=0)3 overlapping SVs

Surrounding Variants

chr18:12464917 A>C

NM_001128626.2

p.S482S

c.1446T>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a3 overlapping SVs

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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."