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

2 papers

NM_013241.3

p.L327P

c.980T>C

Surrounding Variants

1 paper

NM_013241.3

p.Y295C

c.884A>G

1 paper

NM_013241.3

p.F294F

c.882C>T

1 paper

NM_013241.3

p.A333T

c.997G>A

1 paper

NM_013241.3

p.R351Q

c.1052G>A

1 paper

NM_013241.3

p.N282delFs

c.846delG

1 paper

NM_013241.3

p.R366L

c.1097G>T

1 paper

NM_013241.3

p.P238L

c.713C>T

1 paper

NM_013241.3

p.E234K

c.700G>A

2 papers

NM_013241.3

p.V228E

c.683T>A

1 paper

NM_013241.3

p.L226L

c.678G>A

1 paper

NM_013241.3

p.L214_S215Splc

c.643-1G>C

1 paper

NM_013241.3

p.S387A

c.1159T>G