Varaico: Literature-Extracted Genetic Variants

Gene:EFHD1
Variant:p.A2delFs

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
1 paper
NM_025202.4
p.A2delFs
c.4delG
Surrounding Variants
1 paper
NM_025202.4
p.M1I
c.3G>A
1 paper
NM_025202.4
p.E5E
c.15G>A
2 papers
NM_025202.4
p.L6R
c.17T>G
1 paper
NM_025202.4
p.L10Fs
c.30delinsGTFs
1 paper
NM_025202.4
p.E20A
c.59A>C
1 paper
NM_025202.4
p.A33T
c.97G>A
1 paper
NM_025202.4
p.K37_E39del0
c.110_115del6
3 papers
NM_025202.4
p.E41delFs
c.122_123delAG
1 paper
NM_025202.4
p.R45S
c.133C>A
1 paper
NM_025202.4
p.L55V
c.163C>G
1 paper
NM_025202.4
p.G68S
c.202G>A
1 paper
NM_025202.4
p.A70V
c.209C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."