Varaico: Literature-Extracted Genetic Variants

DEPDC5

362 papers

RefSeq Summary

This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the ...

Pfam Domains

IML1_Naa 4–89UCSCIML1 N-terminal double psi beta barrel domain

IML1aa 100–382UCSCVacuolar membrane-associated protein Iml1, N-terminal domain

DEPaa 1190–1260UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

DEPDC5_CTDaa 1278–1585UCSCDEPDC5 protein C-terminal region

Gene Aliases

HGNC Name

DEP domain containing 5, GATOR1 subcomplex subunit

HGNC Alias Symbols

KIAA0645; DEP.5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001242896.3

p.G15delFs

c.44delG

Surrounding Variants

2 papers

NM_001242896.3

p.G15R

c.43G>C

1 paper

NM_001242896.3

p.K13_S19Fs

c.39_55delinsTFs

1 paper

NM_001242896.3

p.K13fs

c.37_38fs

1 paper

NM_001242896.3

p.I11T

c.32T>C

3 papers

NM_001242896.3

p.S19T

c.56G>C

11 papers

NM_001242896.3

p.Y7*

c.21C>A

14 papers

NM_001242896.3

p.Y7*

c.21C>G

7 papers

NM_001242896.3

p.Y7C

c.20A>G

1 paper

NM_001242896.3

p.D20Splc

c.58+6T>C

1 paper

NM_001242896.3

p.K5delFs

c.15delG

1 paper

NM_001242896.3

p.T4delFs

c.12delA

1 paper

NM_001242896.3

p.T3K

c.8C>A