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

1–12 of 190 variants

21 papers

NM_001111077.2

p.T567A

c.1699A>G

7 papers

NM_001111077.2

p.A129T

c.385G>A

5 papers

NM_001111077.2

p.N6S

c.17A>G

4 papers

NM_001111077.2

p.K253N

c.759A>T

4 papers

NM_001111077.2

p.K253N

c.759A>C

4 papers

NM_001111077.2

p.K254N

c.762G>T

4 papers

NM_001111077.2

p.K254N

c.762G>C

4 papers

NM_001111077.2

p.K262N

c.786G>T

4 papers

NM_001111077.2

p.K262N

c.786G>C

4 papers

NM_001111077.2

p.K263N

c.789G>T

4 papers

NM_001111077.2

p.K263N

c.789G>C

3 papers

NM_001111077.2

p.S66A

c.196T>G