Varaico: Literature-Extracted Genetic Variants

NF2

1,550 papers

RefSeq Summary

This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded pro...

Pfam Domains

FERM_Naa 26–87UCSCFERM N-terminal domain

FERM_Maa 104–222UCSCFERM central domain

FERM_Caa 216–270UCSCFERM C-terminal PH-like domain

ERM_helicalaa 301–420UCSCEzrin/radixin/moesin, alpha-helical domain

ERM_Caa 473–550UCSCEzrin/radixin/moesin family C terminal

Gene Aliases

HGNC Name

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

HGNC Alias Symbols

merlin; ACN; SCH; merlin-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000268.4

p.H84R

c.251A>G

Surrounding Variants

1 paper

NM_000268.4

p.H84P

c.251A>C

1 paper

NM_000268.4

p.H84fs

c.250_251fs

8 papers

NM_000268.4

p.H84Y

c.250C>T

1 paper

NM_000268.4

p.D85H

c.253G>C

1 paper

NM_000268.4

p.D85Y

c.253G>T

1 paper

NM_000268.4

p.H84insFs

c.250dupC

1 paper

NM_000268.4

p.H84delFs

c.250delC

1 paper

NM_000268.4

p.D85delFs

c.255delT

1 paper

NM_000268.4

p.D83N

c.247G>A

2 papers

NM_000268.4

p.D85E

c.255T>A

1 paper

NM_000268.4

p.D85E

c.255T>G

2 papers

NM_000268.4

p.V86_P91del6

c.256_272del18