Varaico: Literature-Extracted Genetic Variants

Gene:SPDL1
Variant:p.E476fs

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.E476fs
c.1426_1427fs
Surrounding Variants
1 paper
NM_017785.5
p.E476delFs
c.1426delG
1 paper
NM_017785.5
p.R479L
c.1436G>T
1 paper
NM_017785.5
p.Q483E
c.1447C>G
1 paper
NM_017785.5
p.Q483R
c.1448A>G
1 paper
NM_017785.5
p.V468V
c.1404C>T
1 paper
NM_017785.5
p.K484T
c.1451A>C
1 paper
NM_017785.5
p.D465N
c.1393G>A
1 paper
NM_017785.5
p.T487I
c.1460C>T
1 paper
NM_017785.5
p.A463T
c.1387G>A
1 paper
NM_017785.5
p.P491T
c.1471C>A
1 paper
NM_017785.5
p.I460I
c.1380A>C
1 paper
NM_017785.5
p.L494L
c.1482A>G
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