Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1

EFHC1

152 papers

RefSeq Summary

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juve...

Pfam Domains

DM10_domaa 86–190UCSCDM10 domain
DM10_domaa 232–351UCSCDM10 domain
DM10_domaa 409–512UCSCDM10 domain

Gene Aliases

HGNC Name

EF-hand domain containing 1

HGNC Previous Symbols

EJM1; EJM

Papers
RefSeq ID
Protein change
DNA change
1–12 of 168 variants
36 papers
NM_018100.4
p.F229L
c.685T>C
34 papers
NM_018100.4
p.F229L
c.687T>A
34 papers
NM_018100.4
p.F229L
c.687T>G
20 papers
NM_018100.4
p.R221H
c.662G>A
18 papers
NM_018100.4
p.P77T
c.229C>A
17 papers
NM_018100.4
p.D210N
c.628G>A
16 papers
NM_018100.4
p.R182H
c.545G>A
14 papers
NM_018100.4
p.D253Y
c.757G>T
13 papers
NM_018100.4
p.R159W
c.475C>T
13 papers
NM_018100.4
p.I619L
c.1855A>C
9 papers
NM_018100.4
p.M448T
c.1343T>C
8 papers
NM_018100.4
p.R294H
c.881G>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."