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

4 papers

NM_001111077.2

p.K253N

c.759A>C

Surrounding Variants

4 papers

NM_001111077.2

p.K253N

c.759A>T

4 papers

NM_001111077.2

p.K254N

c.762G>T

4 papers

NM_001111077.2

p.K254N

c.762G>C

1 paper

NM_001111077.2

p.F255L

c.765T>A

1 paper

NM_001111077.2

p.N251S

c.752A>G

1 paper

NM_001111077.2

p.S249A

c.745T>G

1 paper

NM_001111077.2

p.I248T

c.743T>C

4 papers

NM_001111077.2

p.K262N

c.786G>T

4 papers

NM_001111077.2

p.K262N

c.786G>C

1 paper

NM_001111077.2

p.E244Q

c.730G>C

4 papers

NM_001111077.2

p.K263N

c.789G>T

4 papers

NM_001111077.2

p.K263N

c.789G>C