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.F80L

c.238T>C

Surrounding Variants

1 paper

NM_001111077.2

p.F80insFs

c.239_240insC

1 paper

NM_001111077.2

p.F80Y

c.239T>A

1 paper

NM_001111077.2

p.F80L

c.240C>G

1 paper

NM_001111077.2

p.F80L

c.240C>A

3 papers

NM_001111077.2

p.K79E

c.235A>G

1 paper

NM_001111077.2

p.K79Q

c.235A>C

1 paper

NM_001111077.2

p.L76V

c.226C>G

1 paper

NM_001111077.2

p.P75L

c.224C>T

1 paper

NM_001111077.2

p.Y85C

c.254A>G

1 paper

NM_001111077.2

p.E92K

c.274G>A

1 paper

NM_001111077.2

p.E92E

c.276G>A

1 paper

NM_001111077.2

p.A67V

c.200C>T