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.L831P

c.2492T>C

Surrounding Variants

1 paper

NM_013241.3

p.K846del1

c.2536_2537delCTT

1 paper

NM_013241.3

p.L783V

c.2347C>G

1 paper

NM_013241.3

p.R780C

c.2338C>T

1 paper

NM_013241.3

p.E765Q

c.2293G>C

2 papers

NM_013241.3

p.A752V

c.2255C>T

1 paper

NM_013241.3

p.A752T

c.2254G>A

1 paper

NM_013241.3

p.T742A

c.2224A>G

1 paper

NM_013241.3

p.S729I

c.2186G>T

1 paper

NM_013241.3

p.F726L

c.2178T>G

1 paper

NM_013241.3

p.F726L

c.2178T>A

1 paper

NM_013241.3

p.F726L

c.2176T>C

1 paper

NM_013241.3

p.A718D

c.2153C>A