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

2 papers

NM_002444.3

p.R435*

c.1303C>T

Surrounding Variants

1 paper

NM_002444.3

p.E439insFs

c.1316_1317ins4

1 paper

NM_002444.3

p.Q430H

c.1290G>T

1 paper

NM_002444.3

p.Q430*

c.1288C>T

1 paper

NM_002444.3

p.A426P

c.1276G>C

2 papers

NM_002444.3

p.E423E

c.1269G>A

1 paper

NM_002444.3

p.L424_R427del4

c.1270_1280del12

1 paper

NM_002444.3

p.Q453L

c.1358A>T

1 paper

NM_002444.3

p.K458insFs

c.1372dupA

1 paper

NM_002444.3

p.A466fs

c.1396_1397fs

1 paper

NM_002444.3

p.S468_T469insFs

c.1404_1405insG

1 paper

NM_002444.3

p.T469insFs

c.1405_1406insG

1 paper

NM_002444.3

p.P470P

c.1410T>A