Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.C602S

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
2 papers
NM_017785.5
p.C602S
c.1805G>C
Surrounding Variants
2 papers
NM_017785.5
p.C602S
c.1804T>A
1 paper
NM_017785.5
p.P603L
c.1808C>T
1 paper
NM_017785.5
p.T600T
c.1800C>T
1 paper
NM_017785.5
p.T600A
c.1798A>G
1 paper
NM_017785.5
p.P598L
c.1793C>T
1 paper
NM_017785.5
p.P598S
c.1792C>T
1 paper
NM_017785.5
p.S596F
c.1787C>T
1 paper
NM_017785.5
p.S593F
c.1778C>T
5 papers
NM_017785.5
p.L586S
c.1757T>C
1 paper
NM_017785.5
p.K584fs
c.1750_1751fs
1 paper
NM_017785.5
p.C583_L586delFs
c.1749_1758del10
1 paper
NM_017785.5
p.K580N
c.1740A>C
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