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

Selected Variant

1 paper

NM_013241.3

p.C164S

c.490T>A

Surrounding Variants

1 paper

NM_013241.3

p.C164S

c.491G>C

1 paper

NM_013241.3

p.L165P

c.494T>C

1 paper

NM_013241.3

p.L162P

c.485T>C

1 paper

NM_013241.3

p.R167fs

c.499_500fs

1 paper

NM_013241.3

p.R167delFs

c.499delG

1 paper

NM_013241.3

p.E160K

c.478G>A

1 paper

NM_013241.3

p.H158D

c.472C>G

1 paper

NM_013241.3

p.A183V

c.548C>T

1 paper

NM_013241.3

p.G196E

c.587G>A

1 paper

NM_013241.3

p.C211S

c.631T>A

1 paper

NM_013241.3

p.C211S

c.632G>C

1 paper

NM_013241.3

p.L214_S215Splc

c.643-1G>C