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

1 paper

NM_001281740.3

p.T502delFs

c.1504delA

Surrounding Variants

1 paper

NM_001281740.3

p.T502fs

c.1504_1505fs

1 paper

NM_001281740.3

p.R497Q

c.1490G>A

1 paper

NM_001281740.3

p.P492P

c.1476T>A

1 paper

NM_001281740.3

p.P491H

c.1472C>A

1 paper

NM_001281740.3

p.P491S

c.1471C>T

1 paper

NM_001281740.3

p.L515Q

c.1544T>A

1 paper

NM_001281740.3

p.Y517C

c.1550A>G

1 paper

NM_001281740.3

p.S486A

c.1456T>G

1 paper

NM_001281740.3

p.V518M

c.1552G>A

1 paper

NM_001281740.3

p.H524_S527ins1

c.1571_1579dup9

12 papers

NM_001281740.3

p.S527del1

c.1579_1580delTCC

1 paper

NM_001281740.3

p.S527P

c.1579T>C