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.L532F

c.1594C>T

Surrounding Variants

1 paper

NM_013241.3

p.W484*

c.1451G>A

1 paper

NM_013241.3

p.P583fs

c.1747_1748fs

1 paper

NM_013241.3

p.P585fs

c.1753_1754fs

2 papers

NM_013241.3

p.P585fs

c.1753_1754fs

1 paper

NM_013241.3

p.P585delFs

c.1754delG

1 paper

NM_013241.3

p.A474V

c.1421C>T

1 paper

NM_013241.3

p.L466F

c.1396C>T

1 paper

NM_013241.3

p.K454fs

c.1360_1361fs

1 paper

NM_013241.3

p.G639D

c.1916G>A

1 paper

NM_013241.3

p.V662M

c.1984G>A

1 paper

NM_013241.3

p.A718D

c.2153C>A

1 paper

NM_013241.3

p.F726L

c.2176T>C