Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.T225P

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.T225P
c.673A>C
Surrounding Variants
1 paper
NM_018100.4
p.T225S
c.673A>T
1 paper
NM_018100.4
p.T225S
c.674C>G
1 paper
NM_018100.4
p.P226S
c.676C>T
1 paper
NM_018100.4
p.D228_Q231delFs
c.682_692del11
1 paper
NM_018100.4
p.K222E
c.664A>G
1 paper
NM_018100.4
p.D228fs
c.682_683fs
20 papers
NM_018100.4
p.R221H
c.662G>A
4 papers
NM_018100.4
p.R221C
c.661C>T
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
1 paper
NM_018100.4
p.L215F
c.643C>T
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