Varaico: Literature-Extracted Genetic Variants

Gene:CEP72
Variant:p.L506P

CEP72

72 papers

RefSeq Summary

The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major micro...

Pfam Domains

LRR_9aa 40–163UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

centrosomal protein 72

HGNC Alias Symbols

KIAA1519; FLJ10565

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018140.4
p.L506P
c.1517T>C
Surrounding Variants
6 papers
NM_018140.4
p.T509A
c.1525A>G
1 paper
NM_018140.4
p.S500S
c.1500C>T
1 paper
NM_018140.4
p.R497G
c.1489C>G
1 paper
NM_018140.4
p.R497W
c.1489C>T
2 papers
NM_018140.4
p.E490*
c.1468G>T
1 paper
NM_018140.4
p.E490_Q491del1
c.1469_1471delAGC
1 paper
NM_018140.4
p.E490_Q491del2
c.1468_1472del6
1 paper
NM_018140.4
p.R487H
c.1460G>A
1 paper
NM_018140.4
p.L484R
c.1451T>G
1 paper
NM_018140.4
p.E480K
c.1438G>A
1 paper
NM_018140.4
p.A448Splc
c.1343-4C>G
1 paper
NM_018140.4
p.E444K
c.1330G>A
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