Varaico: Literature-Extracted Genetic Variants

FHOD1

73 papers

RefSeq Summary

This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence ...

Pfam Domains

Formin_GBD_Naa 17–101UCSCFormin N-terminal GBD

FH3_FHOD1-3aa 174–309UCSCFHOD1/3 FH3 domain

FH2aa 616–988UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

formin homology 2 domain containing 1

HGNC Alias Symbol

FHOS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

3 papers

NM_013241.3

p.C71S

c.211T>A

3 papers

NM_013241.3

p.C71S

c.212G>C

2 papers

NM_013241.3

p.C31S

c.91T>A

2 papers

NM_013241.3

p.C31S

c.92G>C

2 papers

NM_013241.3

p.A40V

c.119C>T

2 papers

NM_013241.3

p.V228E

c.683T>A

2 papers

NM_013241.3

p.L327P

c.980T>C

2 papers

NM_013241.3

p.L532F

c.1594C>T

2 papers

NM_013241.3

p.P585fs

c.1753_1754fs

2 papers

NM_013241.3

p.A752V

c.2255C>T

2 papers

NM_013241.3

p.S1131A

c.3391T>G

1 paper

NM_013241.3

p.M1delFs

c.2delA