Varaico: Literature-Extracted Genetic Variants

Gene:KIZ
Variant:p.E79*

KIZ

73 papers

RefSeq Summary

The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centr...

Pfam Domains

Kizuna_Naa 18–106UCSCKizuna N-terminal domain

Gene Aliases

HGNC Name

kizuna centrosomal protein

HGNC Previous Symbols

NCRNA00153; C20orf19; PLK1S1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018474.6
p.E79*
c.235G>T
Surrounding Variants
24 papers
NM_018474.6
p.R76*
c.226C>T
2 papers
NM_018474.6
p.R83*
c.247C>T
2 papers
NM_018474.6
p.F84_R86delFs
c.251_258del8
2 papers
NM_018474.6
p.F84fs
c.250_251fs
1 paper
NM_018474.6
p.R86C
c.256C>T
1 paper
NM_018474.6
p.Q88R
c.263A>G
1 paper
NM_018474.6
p.H90R
c.269A>G
1 paper
NM_018474.6
p.H90Q
c.270T>A
1 paper
NM_018474.6
p.H90Q
c.270T>G
2 papers
NM_018474.6
p.Y62_E65del4
c.184_194del12
1 paper
NM_018474.6
p.K53_L54ins1
c.159_160insTAA
1 paper
NM_001163022.3
p.M1I
c.3G>A
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