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.L895M

c.2683C>A

Surrounding Variants

1 paper

NM_013241.3

p.L902P

c.2705T>C

1 paper

NM_013241.3

p.R905Q

c.2714G>A

1 paper

NM_013241.3

p.R949H

c.2846G>A

1 paper

NM_013241.3

p.R953S

c.2859G>T

1 paper

NM_013241.3

p.R953S

c.2859G>C

1 paper

NM_013241.3

p.R981W

c.2941C>T

1 paper

NM_013241.3

p.K846del1

c.2536_2537delCTT

1 paper

NM_013241.3

p.V1034F

c.3100G>T

1 paper

NM_013241.3

p.L831P

c.2492T>C

1 paper

NM_013241.3

p.I1080V

c.3238A>G

1 paper

NM_013241.3

p.E1092*

c.3274G>T

1 paper

NM_013241.3

p.L783V

c.2347C>G