Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.Y485H

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.Y485H
c.1453T>C
Surrounding Variants
1 paper
NM_018100.4
p.P487R
c.1460C>G
1 paper
NM_018100.4
p.D489G
c.1466A>G
1 paper
NM_018100.4
p.V479V
c.1437G>A
1 paper
NM_018100.4
p.F490L
c.1470C>A
1 paper
NM_018100.4
p.V479A
c.1436T>C
1 paper
NM_018100.4
p.R457L
c.1370G>T
1 paper
NM_018100.4
p.P455P
c.1365T>C
9 papers
NM_018100.4
p.M448T
c.1343T>C
1 paper
NM_018100.4
p.T446I
c.1337C>T
1 paper
NM_018100.4
p.A445P
c.1333G>C
1 paper
NM_018100.4
p.L444P
c.1331T>C
1 paper
NM_018100.4
p.R437I
c.1310G>T
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