Varaico: Literature-Extracted Genetic Variants

Gene:EFHD1
Variant:p.R216W

EFHD1

39 papers

RefSeq Summary

This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rea...

Pfam Domains

EF-hand_7aa 92–155UCSCEF-hand domain pair

Gene Aliases

HGNC Name

EF-hand domain family member D1

HGNC Alias Symbol

FLJ13612

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_025202.4
p.R216W
c.646C>T
Surrounding Variants
1 paper
NM_025202.4
p.R216Q
c.647G>A
3 papers
NM_025202.4
p.R218_E219del2
c.652_656del6
3 papers
NM_025202.4
p.R218_E219del1
c.654_656delGGA
1 paper
NM_025202.4
p.L209F
c.627G>C
1 paper
NM_025202.4
p.L209F
c.627G>T
1 paper
NM_025202.4
p.R226H
c.677G>A
1 paper
NM_025202.4
p.Q227R
c.680A>G
1 paper
NM_025202.4
p.A235T
c.703G>A
3 papers
NM_025202.4
p.K186R
c.557A>G
1 paper
NM_025202.4
p.D179G
c.536A>G
1 paper
NM_025202.4
p.S176A
c.526T>G
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