Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.R318R

SPDL1

61 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachmen...

Pfam Domains

Spindlyaa 1–458UCSCSpindly

Gene Aliases

HGNC Name

spindle apparatus coiled-coil protein 1

HGNC Previous Symbol

CCDC99

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017785.5
p.R318R
c.954G>A
Surrounding Variants
1 paper
NM_017785.5
p.R318Q
c.953G>A
1 paper
NM_017785.5
p.M322V
c.964A>G
1 paper
NM_017785.5
p.E324K
c.970G>A
1 paper
NM_017785.5
p.E324G
c.971A>G
1 paper
NM_017785.5
p.T311A
c.931A>G
1 paper
NM_017785.5
p.K326R
c.977A>G
1 paper
NM_017785.5
p.G328C
c.982G>T
1 paper
NM_017785.5
p.I330M
c.990A>G
1 paper
NM_017785.5
p.Q305Q
c.915G>A
1 paper
NM_017785.5
p.H332L
c.995A>T
1 paper
NM_017785.5
p.L304P
c.911T>C
1 paper
NM_017785.5
p.G335D
c.1004G>A
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