Varaico: Literature-Extracted Genetic Variants

EZR

316 papers

RefSeq Summary

The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an interm...

Pfam Domains

FERM_Naa 9–71UCSCFERM N-terminal domain

FERM_Maa 88–206UCSCFERM central domain

FERM_Caa 210–299UCSCFERM C-terminal PH-like domain

ERM_helicalaa 337–456UCSCEzrin/radixin/moesin, alpha-helical domain

ERM_Caa 510–586UCSCEzrin/radixin/moesin family C terminal

Gene Aliases

HGNC Name

ezrin

HGNC Previous Symbol

VIL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

21 papers

NM_001111077.2

p.T567A

c.1699A>G

Surrounding Variants

1 paper

NM_001111077.2

p.T567P

c.1699A>C

1 paper

NM_001111077.2

p.T567M

c.1700C>T

2 papers

NM_001111077.2

p.K566Q

c.1696A>C

2 papers

NM_001111077.2

p.K564Q

c.1690A>C

1 paper

NM_001111077.2

p.R572W

c.1714C>T

1 paper

NM_001111077.2

p.R562W

c.1684C>T

2 papers

NM_001111077.2

p.T576A

c.1726A>G

1 paper

NM_001111077.2

p.K577N

c.1731G>T

1 paper

NM_001111077.2

p.K577N

c.1731G>C

1 paper

NM_001111077.2

p.E556K

c.1666G>A

1 paper

NM_001111077.2

p.R579C

c.1735C>T

1 paper

NM_001111077.2

p.D581N

c.1741G>A