Varaico: Literature-Extracted Genetic Variants

FGD1

186 papers

RefSeq Summary

This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rh...

Pfam Domains

RhoGEFaa 377–559UCSCRhoGEF domain

PHaa 591–689UCSCPH domain

FYVEaa 726–791UCSCFYVE zinc finger

PHaa 822–921UCSCPH domain

Gene Aliases

HGNC Name

FYVE, RhoGEF and PH domain containing 1

HGNC Previous Symbol

FGDY

Papers

RefSeq ID

Protein change

DNA change

1–12 of 337 variants

23 papers

NM_004463.3

p.P312L

c.935C>T

17 papers

NM_004463.3

p.R408Q

c.1223G>A

14 papers

NM_004463.3

p.R610Q

c.1829G>A

13 papers

NM_004463.3

p.P176insFs

c.527dupC

13 papers

NM_004463.3

p.S205I

c.614G>T

12 papers

NM_004463.3

p.R443H

c.1328G>A

12 papers

NM_004463.3

p.R522H

c.1565G>A

11 papers

NM_004463.3

p.E380A

c.1139A>C

11 papers

NM_004463.3

p.M466V

c.1396A>G

11 papers

NM_004463.3

p.K731delFs

c.2192delT

10 papers

NM_004463.3

p.R656*

c.1966C>T

8 papers

NM_004463.3

p.R402Q

c.1205G>A