Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.D253Y

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
14 papers
NM_018100.4
p.D253Y
c.757G>T
Surrounding Variants
6 papers
NM_018100.4
p.T252K
c.755C>A
1 paper
NM_018100.4
p.G257D
c.770G>A
7 papers
NM_018100.4
p.C259Y
c.776G>A
1 paper
NM_018100.4
p.Y246C
c.737A>G
2 papers
NM_018100.4
p.R260Q
c.779G>A
2 papers
NM_018100.4
p.R244Q
c.731G>A
2 papers
NM_018100.4
p.R244*
c.730C>T
1 paper
NM_018100.4
p.I263delFs
c.789delC
2 papers
NM_018100.4
p.R276*
c.826C>T
1 paper
NM_018100.4
p.R276Q
c.827G>A
1 paper
NM_018100.4
p.E277K
c.829G>A
1 paper
NM_018100.4
p.R281W
c.841C>T
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