Varaico: Literature-Extracted Genetic Variants

FHOD3

170 papers

RefSeq Summary

The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (for...

Pfam Domains

Formin_GBD_Naa 5–89UCSCFormin N-terminal GBD

FH3_FHOD1-3aa 162–297UCSCFHOD1/3 FH3 domain

FH2aa 883–1254UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

formin homology 2 domain containing 3

HGNC Alias Symbols

FHOS2; KIAA1695; FLJ22297; FLJ22717

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001281740.3

p.S549Splc

c.1646+1G>C

Surrounding Variants

7 papers

NM_001281740.3

p.S549Splc

c.1646+1G>A

2 papers

NM_001281740.3

p.S549Splc

c.1646+1G>T

1 paper

NM_001281740.3

p.S549N

c.1646G>A

1 paper

NM_001281740.3

p.S549T

c.1646G>C

2 papers

NM_001281740.3

p.S549Splc

c.1646+2T>C

1 paper

NM_001281740.3

p.E547A

c.1640A>C

1 paper

NM_001281740.3

p.A542E

c.1625C>A

1 paper

NM_001281740.3

p.T537A

c.1609A>G

1 paper

NM_001281740.3

p.L535P

c.1604T>C

3 papers

NM_001281740.3

p.S533F

c.1598C>T

11 papers

NM_001281740.3

p.Y528C

c.1583A>G

2 papers

NM_001281740.3

p.S527F

c.1580C>T