Varaico: Literature-Extracted Genetic Variants

Gene:SPIDR
Variant:p.R585C

SPIDR

70 papers

Pfam Domains

DUF4502aa 11–369UCSCDomain of unknown function (DUF4502)
DUF4503aa 521–906UCSCDomain of unknown function (DUF4503)

Gene Aliases

HGNC Name

scaffold protein involved in DNA repair

HGNC Previous Symbol

KIAA0146

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001080394.4
p.R585C
c.1753C>T
Surrounding Variants
1 paper
NM_001080394.4
p.E591K
c.1771G>A
1 paper
NM_001080394.4
p.A577V
c.1730C>T
1 paper
NM_001080394.4
p.I570fs
c.1708_1709fs
1 paper
NM_001080394.4
p.H608Y
c.1822C>T
1 paper
NM_001080394.4
p.P609S
c.1825C>T
1 paper
NM_001080394.4
p.D615_D618del0
c.1845_1853del9
1 paper
NM_001080394.4
p.L625F
c.1873C>T
1 paper
NM_001282916.1
p.R562H
c.1685G>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."