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.G471R

c.1411G>C

Surrounding Variants

1 paper

NM_001281740.3

p.G471R

c.1411G>A

1 paper

NM_001281740.3

p.P463S

c.1387C>T

2 papers

NM_001281740.3

p.G461delFs

c.1381_1382delGG

1 paper

NM_001281740.3

p.S459delFs

c.1376delC

1 paper

NM_001281740.3

p.S459fs

c.1375_1376fs

1 paper

NM_001281740.3

p.S486A

c.1456T>G

3 papers

NM_001281740.3

p.S455L

c.1364C>T

1 paper

NM_001281740.3

p.P491S

c.1471C>T

1 paper

NM_001281740.3

p.P491H

c.1472C>A

1 paper

NM_001281740.3

p.P492P

c.1476T>A

1 paper

NM_001281740.3

p.S449_S455delFs

c.1346_1364del19

1 paper

NM_001281740.3

p.R497Q

c.1490G>A