Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.H89R

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
3 papers
NM_018100.4
p.H89R
c.266A>G
Surrounding Variants
1 paper
NM_018100.4
p.P82L
c.245C>T
1 paper
NM_018100.4
p.P82S
c.244C>T
18 papers
NM_018100.4
p.P77T
c.229C>A
1 paper
NM_018100.4
p.Y74*
c.222T>A
1 paper
NM_018100.4
p.Y74*
c.222T>G
1 paper
NM_018100.4
p.A69E
c.206C>A
1 paper
NM_018100.4
p.A66A
c.198C>A
1 paper
NM_018100.4
p.Q59delFs
c.175_176delCA
1 paper
NM_018100.4
p.L52P
c.155T>C
1 paper
NM_018100.4
p.R42P
c.125G>C
3 papers
NM_018100.4
p.R41R
c.121C>A
1 paper
NM_018100.4
p.R41*
c.121C>T
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