Varaico: Literature-Extracted Genetic Variants

Gene:CEP170
Variant:p.S994C

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.S994C
c.2980A>T
Surrounding Variants
1 paper
NM_014812.3
p.S981Y
c.2942C>A
2 papers
NM_014812.3
p.P1018P
c.3054C>T
2 papers
NM_014812.3
p.T953I
c.2858C>T
2 papers
NM_014812.3
p.P1051L
c.3152C>T
1 paper
NM_014812.3
p.S933A
c.2797T>G
1 paper
NM_014812.3
p.S930A
c.2788T>G
1 paper
NM_014812.3
p.S1059L
c.3176C>T
1 paper
NM_014812.3
p.D911_G917del0
c.2732_2749del18
1 paper
NM_014812.3
p.T914A
c.2740A>G
1 paper
NM_014812.3
p.V1082A
c.3245T>C
1 paper
NM_014812.3
p.I893F
c.2677A>T
1 paper
NM_014812.3
p.L1102R
c.3305T>G
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