Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.D241Y

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.D241Y
c.721G>T
Surrounding Variants
1 paper
NM_017785.5
p.D241G
c.722A>G
1 paper
NM_017785.5
p.Q239*
c.715C>T
1 paper
NM_017785.5
p.Q234H
c.702A>C
1 paper
NM_017785.5
p.A247A
c.741C>G
1 paper
NM_017785.5
p.Q234*
c.700C>T
1 paper
NM_017785.5
p.P250H
c.749C>A
1 paper
NM_017785.5
p.P250P
c.750C>G
1 paper
NM_017785.5
p.P250P
c.750C>T
1 paper
NM_017785.5
p.R230H
c.689G>A
1 paper
NM_017785.5
p.A229T
c.685G>A
1 paper
NM_017785.5
p.K228R
c.683A>G
1 paper
NM_017785.5
p.G254D
c.761G>A
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