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

1–12 of 341 variants

12 papers

NM_001281740.3

p.S527del1

c.1579_1580delTCC

12 papers

NM_001281740.3

p.R637Q

c.1910G>A

11 papers

NM_001281740.3

p.Y528C

c.1583A>G

7 papers

NM_001281740.3

p.S549Splc

c.1646+1G>A

6 papers

NM_001281740.3

p.R637P

c.1910G>C

5 papers

NM_001281740.3

p.R634G

c.1900A>G

5 papers

NM_001281740.3

p.R637G

c.1909C>G

5 papers

NM_001281740.3

p.R637W

c.1909C>T

5 papers

NM_001281740.3

p.R641S

c.1923A>C

5 papers

NM_001281740.3

p.R641S

c.1923A>T

5 papers

NM_001281740.3

p.R644S

c.1932G>C

5 papers

NM_001281740.3

p.R644S

c.1932G>T