Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.K14K

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.K14K
c.42A>G
Surrounding Variants
1 paper
NM_017785.5
p.E15A
c.44A>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.A16D
c.47C>A
1 paper
NM_017785.5
p.E17K
c.49G>A
1 paper
NM_017785.5
p.E19G
c.56A>G
1 paper
NM_017785.5
p.R10*
c.28C>T
1 paper
NM_017785.5
p.L9R
c.26T>G
2 papers
NM_017785.5
p.L9F
c.25C>T
6 papers
NM_017785.5
p.R20Q
c.59G>A
1 paper
NM_017785.5
p.N8I
c.23A>T
1 paper
NM_017785.5
p.N8D
c.22A>G
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