Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.L194Q

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.L194Q
c.581T>A
Surrounding Variants
1 paper
NM_017785.5
p.E192G
c.575A>G
1 paper
NM_017785.5
p.Q191Q
c.573A>G
1 paper
NM_017785.5
p.L197P
c.590T>C
1 paper
NM_017785.5
p.T199A
c.595A>G
1 paper
NM_017785.5
p.Q188Q
c.564A>G
1 paper
NM_017785.5
p.L187L
c.559C>T
1 paper
NM_017785.5
p.R203L
c.608G>T
1 paper
NM_017785.5
p.V184V
c.552G>C
1 paper
NM_017785.5
p.D206N
c.616G>A
1 paper
NM_017785.5
p.K181R
c.542A>G
1 paper
NM_017785.5
p.K181*
c.541A>T
1 paper
NM_017785.5
p.K209*
c.625A>T
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