Varaico: Literature-Extracted Genetic Variants

Gene:ENKUR
Variant:p.I176M

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
Selected Variant
1 paper
NM_145010.4
p.I176M
c.528C>G
Surrounding Variants
1 paper
NM_145010.4
p.R174C
c.520C>T
1 paper
NM_145010.4
p.K167E
c.499A>G
1 paper
NM_145010.4
p.I124M
c.372T>G
1 paper
NM_145010.4
p.N107K
c.321T>G
1 paper
NM_145010.4
p.N107K
c.321T>A
1 paper
NM_145010.4
p.I99M
c.297A>G
1 paper
NM_145010.4
p.W204C
c.612G>T
1 paper
NM_145010.4
p.W204C
c.612G>C
1 paper
NM_145010.4
p.L214delFs
c.640delG
1 paper
NM_145010.4
p.R229G
c.685A>G
1 paper
NM_145010.4
p.M234T
c.701T>C
1 paper
NM_145010.4
p.E245K
c.733G>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."