Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.T30M

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
1 paper
NM_018100.4
p.T30M
c.89C>T
Surrounding Variants
1 paper
NM_018100.4
p.L31P
c.92T>C
2 papers
NM_018100.4
p.Y33H
c.97T>C
1 paper
NM_018100.4
p.R34delFs
c.101delG
1 paper
NM_018100.4
p.H26Y
c.76C>T
1 paper
NM_018100.4
p.A24T
c.70G>A
1 paper
NM_018100.4
p.Y37C
c.110A>G
1 paper
NM_018100.4
p.T21_K22Splc
c.64-1G>A
1 paper
NM_018100.4
p.T21_K22Splc
c.64-3C>T
1 paper
NM_018100.4
p.T21_K22Splc
c.64-5T>C
3 papers
NM_018100.4
p.R41R
c.121C>A
1 paper
NM_018100.4
p.R41*
c.121C>T
1 paper
NM_018100.4
p.R42P
c.125G>C
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."