Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.L9R

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.L9R
c.26T>G
Surrounding Variants
2 papers
NM_017785.5
p.L9F
c.25C>T
1 paper
NM_017785.5
p.R10*
c.28C>T
1 paper
NM_017785.5
p.N8I
c.23A>T
1 paper
NM_017785.5
p.N8D
c.22A>G
1 paper
NM_017785.5
p.T7I
c.20C>T
1 paper
NM_017785.5
p.I6L
c.16A>C
1 paper
NM_017785.5
p.L13R
c.38T>G
1 paper
NM_017785.5
p.L13delFs
c.39delC
1 paper
NM_017785.5
p.I5V
c.13A>G
1 paper
NM_017785.5
p.D4G
c.11A>G
1 paper
NM_017785.5
p.K14K
c.42A>G
1 paper
NM_017785.5
p.E15A
c.44A>C
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