Varaico: Literature-Extracted Genetic Variants

Gene:CEP170
Variant:p.E221A

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.E221A
c.662A>C
Surrounding Variants
3 papers
NM_014812.3
p.G213S
c.637G>A
1 paper
NM_014812.3
p.S252L
c.755C>T
1 paper
NM_014812.3
p.I282F
c.844A>T
1 paper
NM_014812.3
p.V298A
c.893T>C
1 paper
NM_014812.3
p.D304H
c.910G>C
1 paper
NM_014812.3
p.H307R
c.920A>G
1 paper
NM_014812.3
p.Q323R
c.968A>G
1 paper
NM_014812.3
p.N340S
c.1019A>G
1 paper
NM_014812.3
p.K369E
c.1105A>G
1 paper
NM_014812.3
p.R389C
c.1165C>T
1 paper
NM_014812.3
p.K392N
c.1176A>T
1 paper
NM_014812.3
p.R393H
c.1178G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."