Varaico: Literature-Extracted Genetic Variants

Gene:EFHD1

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
1–12 of 37 variants
3 papers
NM_025202.4
p.E41delFs
c.122_123delAG
3 papers
NM_025202.4
p.R73delFs
c.218_219delGG
3 papers
NM_025202.4
p.L122_G123del2
c.364_368del6
3 papers
NM_025202.4
p.L122_G123del1
c.366_368delGGG
3 papers
NM_025202.4
p.K186R
c.557A>G
3 papers
NM_025202.4
p.R218_E219del2
c.652_656del6
3 papers
NM_025202.4
p.R218_E219del1
c.654_656delGGA
2 papers
NM_025202.4
p.L6R
c.17T>G
2 papers
NM_025202.4
p.E83G
c.248A>G
2 papers
NM_025202.4
p.R216W
c.646C>T
1 paper
NM_025202.4
p.A2delFs
c.4delG
1 paper
NM_025202.4
p.M1I
c.3G>A
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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."