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

2 papers

NM_025184.4

p.I470V

c.1408A>G

Surrounding Variants

1 paper

NM_025184.4

p.E471Q

c.1411G>C

1 paper

NM_025184.4

p.E468K

c.1402G>A

1 paper

NM_025184.4

p.I455I

c.1365T>C

1 paper

NM_025184.4

p.M452I

c.1356G>T

1 paper

NM_025184.4

p.M452I

c.1356G>C

1 paper

NM_025184.4

p.M452I

c.1356G>A

1 paper

NM_025184.4

p.A439fs

c.1315_1316fs

7 papers

NM_025184.4

p.S430Y

c.1289C>A

3 papers

NM_025184.4

p.R486S

c.1456C>A

1 paper

NM_025184.4

p.R486H

c.1457G>A

1 paper

NM_025184.4

p.V487I

c.1459G>A

1 paper

NM_025184.4

p.Q492K

c.1474C>A