Varaico: Literature-Extracted Genetic Variants

Gene:EFHD1
Variant:p.L122_G123del1

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
3 papers
NM_025202.4
p.L122_G123del1
c.366_368delGGG
Surrounding Variants
3 papers
NM_025202.4
p.L122_G123del2
c.364_368del6
1 paper
NM_025202.4
p.E114E
c.342G>A
1 paper
NM_025202.4
p.I110_L115del6
c.328_344del18
1 paper
NM_025202.4
p.S176A
c.526T>G
1 paper
NM_025202.4
p.D179G
c.536A>G
3 papers
NM_025202.4
p.K186R
c.557A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."