Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.E112A

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.E112A
c.335A>C
Surrounding Variants
1 paper
NM_018100.4
p.T111N
c.332C>A
4 papers
NM_018100.4
p.R118C
c.352C>T
1 paper
NM_018100.4
p.R118L
c.353G>T
1 paper
NM_018100.4
p.E105Q
c.313G>C
1 paper
NM_018100.4
p.Y123_Y125delFs
c.369_373del5
1 paper
NM_018100.4
p.S132C
c.395C>G
2 papers
NM_018100.4
p.V133A
c.398T>C
1 paper
NM_018100.4
p.P136R
c.407C>G
1 paper
NM_018100.4
p.V138I
c.412G>A
2 papers
NM_018100.4
p.R153W
c.457C>T
4 papers
NM_018100.4
p.R153Q
c.458G>A
1 paper
NM_018100.4
p.A155T
c.463G>A
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