Varaico: Literature-Extracted Genetic Variants

MSN

243 papers

RefSeq Summary

Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and a...

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 501–577UCSCEzrin/radixin/moesin family C terminal

Gene Aliases

HGNC Name

moesin

Papers

RefSeq ID

Protein change

DNA change

1–12 of 158 variants

18 papers

NM_002444.3

p.R171W

c.511C>T

10 papers

NM_002444.3

p.R553*

c.1657C>T

6 papers

NM_002444.3

p.D186E

c.558T>A

6 papers

NM_002444.3

p.T558A

c.1672A>G

4 papers

NM_002444.3

p.K79E

c.235A>G

4 papers

NM_002444.3

p.W217*

c.650G>A

4 papers

NM_002444.3

p.W217*

c.651G>A

4 papers

NM_002444.3

p.E312*

c.934G>T

3 papers

NM_002444.3

p.R533*

c.1597A>T

2 papers

NM_002444.3

p.K63N

c.189G>C

2 papers

NM_002444.3

p.K63N

c.189G>T

2 papers

NM_002444.3

p.R180C

c.538C>T