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

Selected Variant

3 papers

NM_025184.4

p.R132W

c.394C>T

Surrounding Variants

1 paper

NM_025184.4

p.R132Q

c.395G>A

2 papers

NM_025184.4

p.R133H

c.398G>A

2 papers

NM_025184.4

p.R135Q

c.404G>A

1 paper

NM_025184.4

p.R163W

c.487C>T

1 paper

NM_025184.4

p.R163R

c.489G>A

1 paper

NM_025184.4

p.I167V

c.499A>G

1 paper

NM_025184.4

p.I167N

c.500T>A

1 paper

NM_025184.4

p.G182R

c.544G>C

1 paper

NM_025184.4

p.G182R

c.544G>A

1 paper

NM_025184.4

p.P192L

c.575C>T