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

12 papers

NM_001242896.3

p.R286*

c.856C>T

Surrounding Variants

7 papers

NM_001242896.3

p.Q289*

c.865C>T

8 papers

NM_001242896.3

p.Y281F

c.842A>T

1 paper

NM_001242896.3

p.I279insFs

c.835dupA

1 paper

NM_001242896.3

p.F278fs

c.832_833fs

1 paper

NM_001242896.3

p.F278delFs

c.832_833delTT

1 paper

NM_001242896.3

p.V272I

c.814G>A

8 papers

NM_001242896.3

p.V272L

c.814G>C

8 papers

NM_001242896.3

p.V272L

c.814G>T

1 paper

NM_001242896.3

p.L270F

c.808C>T

1 paper

NM_001242896.3

p.E265fs

c.793_794fs

2 papers

NM_001242896.3

p.R264I

c.791G>T

2 papers

NM_001242896.3

p.R264fs

c.790_791fs