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

1 paper

NM_001111077.2

p.I37V

c.109A>G

Surrounding Variants

1 paper

NM_001111077.2

p.T36T

c.108T>A

1 paper

NM_001111077.2

p.K35Q

c.103A>C

1 paper

NM_001111077.2

p.V34I

c.100G>A

1 paper

NM_001111077.2

p.R40L

c.119G>T

2 papers

NM_001111077.2

p.V33G

c.98T>G

1 paper

NM_001111077.2

p.E41A

c.122A>C

1 paper

NM_001111077.2

p.Y44C

c.131A>G

2 papers

NM_001111077.2

p.Y49F

c.146A>T

1 paper

NM_001111077.2

p.V50delFs

c.149_150delCA

1 paper

NM_001111077.2

p.T57A

c.169A>G

1 paper

NM_001111077.2

p.L59Q

c.176T>A

1 paper

NM_001111077.2

p.K60Q

c.178A>C