Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.L168P

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
Selected Variant
1 paper
NM_018100.4
p.L168P
c.503T>C
Surrounding Variants
1 paper
NM_018100.4
p.R170R
c.510A>T
1 paper
NM_018100.4
p.G171R
c.511G>A
1 paper
NM_018100.4
p.G171R
c.511G>C
1 paper
NM_018100.4
p.Y163*
c.489C>A
1 paper
NM_018100.4
p.Y163*
c.489C>G
7 papers
NM_018100.4
p.I174V
c.520A>G
1 paper
NM_018100.4
p.T175_I176del2
c.523_527del6
1 paper
NM_018100.4
p.D161G
c.482A>G
1 paper
NM_018100.4
p.G160V
c.479G>T
13 papers
NM_018100.4
p.R159W
c.475C>T
1 paper
NM_018100.4
p.F181_V183delins
c.543_547delinsTTGAT
1 paper
NM_018100.4
p.A155T
c.463G>A
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