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.P119insFs

c.356dupC

Surrounding Variants

1 paper

NM_001111077.2

p.E120*

c.358G>T

1 paper

NM_001111077.2

p.C117Y

c.350G>A

1 paper

NM_001111077.2

p.Y116Y

c.348C>T

2 papers

NM_001111077.2

p.L125S

c.374T>C

1 paper

NM_001111077.2

p.D113E

c.339T>G

1 paper

NM_001111077.2

p.D113E

c.339T>A

7 papers

NM_001111077.2

p.A129T

c.385G>A

1 paper

NM_001111077.2

p.G109*

c.325G>T

1 paper

NM_001111077.2

p.H142_K143delFs

c.424_427del4

1 paper

NM_001111077.2

p.S144insFs

c.431_432insA

1 paper

NM_001111077.2

p.Y146D

c.436T>G

1 paper

NM_001111077.2

p.Y146F

c.437A>T