Varaico: Literature-Extracted Genetic Variants

EFHC2

63 papers

RefSeq Summary

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins...

Pfam Domains

DM10_domaa 68–174UCSCDM10 domain

DM10_domaa 219–318UCSCDM10 domain

DM10_domaa 311–360UCSCDM10 domain

DM10_domaa 419–530UCSCDM10 domain

Gene Aliases

HGNC Name

EF-hand domain containing 2

HGNC Previous Symbol

MRX74

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

7 papers

NM_025184.4

p.S430Y

c.1289C>A

3 papers

NM_025184.4

p.R132W

c.394C>T

3 papers

NM_025184.4

p.R486S

c.1456C>A

2 papers

NM_025184.4

p.R133H

c.398G>A

2 papers

NM_025184.4

p.R135Q

c.404G>A

2 papers

NM_025184.4

p.I470V

c.1408A>G

2 papers

NM_025184.4

p.K702N

c.2106G>T

2 papers

NM_025184.4

p.K702N

c.2106G>C

1 paper

NM_025184.4

p.P7insFs

c.19_20insG

1 paper

NM_025184.4

p.G8V

c.23G>T

1 paper

NM_025184.4

p.C57Y

c.170G>A

1 paper

NM_025184.4

p.G63*

c.187G>T