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.T109R

c.326C>G

Surrounding Variants

1 paper

NM_013241.3

p.R106P

c.317G>C

1 paper

NM_013241.3

p.Y99F

c.296A>T

1 paper

NM_013241.3

p.E85K

c.253G>A

1 paper

NM_013241.3

p.Y81C

c.242A>G

3 papers

NM_013241.3

p.C71S

c.212G>C

3 papers

NM_013241.3

p.C71S

c.211T>A

1 paper

NM_013241.3

p.H158D

c.472C>G

1 paper

NM_013241.3

p.E160K

c.478G>A

1 paper

NM_013241.3

p.L162P

c.485T>C

1 paper

NM_013241.3

p.C164S

c.490T>A

1 paper

NM_013241.3

p.C164S

c.491G>C

1 paper

NM_013241.3

p.L165P

c.494T>C