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

5 papers

NM_001281740.3

p.R644S

c.1932G>C

Surrounding Variants

5 papers

NM_001281740.3

p.R644S

c.1932G>T

1 paper

NM_001281740.3

p.E642K

c.1924G>A

5 papers

NM_001281740.3

p.R641S

c.1923A>C

5 papers

NM_001281740.3

p.R641S

c.1923A>T

1 paper

NM_001281740.3

p.R641K

c.1922G>A

2 papers

NM_001281740.3

p.I648T

c.1943T>C

1 paper

NM_001281740.3

p.R638Q

c.1913G>A

4 papers

NM_001281740.3

p.R638W

c.1912C>T

12 papers

NM_001281740.3

p.R637Q

c.1910G>A

6 papers

NM_001281740.3

p.R637P

c.1910G>C

5 papers

NM_001281740.3

p.R637G

c.1909C>G

5 papers

NM_001281740.3

p.R637W

c.1909C>T