Varaico: Literature-Extracted Genetic Variants

Gene:ENKUR

ENKUR

24 papers

RefSeq Summary

This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal...

Pfam Domains

Enkurinaa 90–186UCSCCalmodulin-binding

Gene Aliases

HGNC Name

enkurin, TRPC channel interacting protein

HGNC Previous Symbol

C10orf63

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
2 papers
NM_145010.4
p.C5Y
c.14G>A
1 paper
NM_145010.4
p.C9Y
c.26G>A
1 paper
NM_145010.4
p.S16delFs
c.46delT
1 paper
NM_145010.4
p.K19N
c.57G>T
1 paper
NM_145010.4
p.K19N
c.57G>C
1 paper
NM_145010.4
p.P22S
c.64C>T
1 paper
NM_145010.4
p.Q23H
c.69G>C
1 paper
NM_145010.4
p.H66Q
c.198T>G
1 paper
NM_145010.4
p.H66Q
c.198T>A
1 paper
NM_145010.4
p.E69K
c.205G>A
1 paper
NM_145010.4
p.I99M
c.297A>G
1 paper
NM_145010.4
p.N107K
c.321T>G
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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."