Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.V556L

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.V556L
c.1666G>C
Surrounding Variants
3 papers
NM_018100.4
p.V556L
c.1666G>T
1 paper
NM_018100.4
p.D553N
c.1657G>A
1 paper
NM_018100.4
p.D553fs
c.1657_1658fs
1 paper
NM_018100.4
p.K552insFs
c.1656dupG
1 paper
NM_018100.4
p.R596G
c.1786A>G
1 paper
NM_018100.4
p.N607_K616del10
c.1819_1847del30
1 paper
NM_018100.4
p.N607N
c.1821C>T
1 paper
NM_018100.4
p.V615I
c.1843G>A
1 paper
NM_018100.4
p.E617_L618Splc
c.1851+1G>A
2 papers
NM_018100.4
p.E617_L618Splc
c.1851+59C>T
13 papers
NM_018100.4
p.I619L
c.1855A>C
3 papers
NM_018100.4
p.I619S
c.1856T>G
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