Varaico: Literature-Extracted Genetic Variants

Gene:CEP170
Variant:p.K392N

CEP170

158 papers

RefSeq Summary

The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein...

Pfam Domains

FHAaa 23–90UCSCFHA domain
CEP170_Caa 809–1506UCSCCEP170 C-terminus

Gene Aliases

HGNC Name

centrosomal protein 170

HGNC Previous Symbol

KIAA0470

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014812.3
p.K392N
c.1176A>T
Surrounding Variants
1 paper
NM_014812.3
p.R393H
c.1178G>A
1 paper
NM_014812.3
p.R389C
c.1165C>T
1 paper
NM_014812.3
p.R402H
c.1205G>A
1 paper
NM_014812.3
p.K418R
c.1253A>G
1 paper
NM_014812.3
p.Q422K
c.1264C>A
1 paper
NM_014812.3
p.A428T
c.1282G>A
1 paper
NM_014812.3
p.M475I
c.1425G>T
1 paper
NM_014812.3
p.M475I
c.1425G>C
1 paper
NM_014812.3
p.M475I
c.1425G>A
4 papers
NM_014812.3
p.T484T
c.1452T>C
1 paper
NM_014812.3
p.D495V
c.1484A>T
1 paper
NM_014812.3
p.K369E
c.1105A>G
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