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.D850fs

c.2548_2549fs

Surrounding Variants

1 paper

NM_001242896.3

p.D850insFs

c.2548dupG

1 paper

NM_001242896.3

p.Q851P

c.2552A>C

1 paper

NM_001242896.3

p.R845H

c.2534G>A

14 papers

NM_001242896.3

p.R843*

c.2527C>T

8 papers

NM_001242896.3

p.T864M

c.2591C>T

2 papers

NM_001242896.3

p.L865L

c.2593C>T

1 paper

NM_001242896.3

p.T873_Y875delFs

c.2619_2625del7

11 papers

NM_001242896.3

p.R874*

c.2620C>T

NM_001136029.4

p.R865*

c.2593C>T

1 paper

NM_001242896.3

p.R874fs

c.2620_2621fs

1 paper

NM_001242896.3

p.Y875delFs

c.2623delT

2 papers

NM_001242896.3

p.Y875fs

c.2623_2624fs

1 paper

NM_001242896.3

p.Y875*

c.2625C>A