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

Selected Variant

1 paper

NM_002444.3

p.E547K

c.1639G>A

Surrounding Variants

1 paper

NM_002444.3

p.M549L

c.1645A>C

1 paper

NM_002444.3

p.R550*

c.1648C>T

1 paper

NM_002444.3

p.D542Y

c.1624G>T

10 papers

NM_002444.3

p.R553*

c.1657C>T

1 paper

NM_002444.3

p.T558P

c.1672A>C

6 papers

NM_002444.3

p.T558A

c.1672A>G

2 papers

NM_002444.3

p.E535*

c.1603G>T

3 papers

NM_002444.3

p.R533*

c.1597A>T

1 paper

NM_002444.3

p.E516*

c.1546G>T

1 paper

NM_002444.3

p.K501K

c.1503G>A

1 paper

NM_002444.3

p.A498_E506del9

c.1492_1517del27

1 paper

NM_002444.3

p.G487V

c.1460G>T