Varaico: Literature-Extracted Genetic Variants

RDX

239 papers

RefSeq Summary

Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluor...

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

Gene Aliases

HGNC Name

radixin

HGNC Previous Symbol

DFNB24

Papers

RefSeq ID

Protein change

DNA change

1–12 of 168 variants

7 papers

NM_002906.4

p.T564A

c.1690A>G

4 papers

NM_002906.4

p.D578N

c.1732G>A

3 papers

NM_002906.4

p.V37I

c.109G>A

3 papers

NM_002906.4

p.Q155*

c.463C>T

3 papers

NM_002906.4

p.K233Splc

c.698+1G>A

3 papers

NM_002906.4

p.R381*

c.1141C>T

2 papers

NM_002906.4

p.G38_L39insFs

c.114_115insT

2 papers

NM_002906.4

p.W43_F44delFs

c.129_130delAC

2 papers

NM_002906.4

p.K79E

c.235A>G

2 papers

NM_002906.4

p.P118P

c.354G>T

2 papers

NM_002906.4

p.A129_V130del2

c.385_389del6

2 papers

NM_002906.4

p.S187T

c.559T>A