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

3 papers

NM_001242896.3

p.Q566delFs

c.1696delC

Surrounding Variants

2 papers

NM_001242896.3

p.Q566fs

c.1696_1697fs

1 paper

NM_001242896.3

p.Q566*

c.1696C>T

5 papers

NM_001242896.3

p.R567*

c.1699C>T

1 paper

NM_001242896.3

p.R567_D568insFs

c.1701_1704dup4

1 paper

NM_001242896.3

p.S569fs

c.1705_1706fs

1 paper

NM_001242896.3

p.R574G

c.1720A>G

1 paper

NM_001242896.3

p.H576Q

c.1728C>A

2 papers

NM_001242896.3

p.V577I

c.1729G>A

1 paper

NM_001242896.3

p.G578V

c.1733G>T

3 papers

NM_001242896.3

p.L584fs

c.1750_1751fs

13 papers

NM_001242896.3

p.R587*

c.1759C>T

1 paper

NM_001242896.3

p.R587L

c.1760G>T