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.T3R

c.8C>G

Surrounding Variants

1 paper

NM_001242896.3

p.T3K

c.8C>A

1 paper

NM_001242896.3

p.T4delFs

c.12delA

1 paper

NM_001242896.3

p.T3insFs

c.7dupA

1 paper

NM_001242896.3

p.M1_R2insFs

c.3_4insCA

1 paper

NM_001242896.3

p.K5delFs

c.15delG

1 paper

NM_001242896.3

p.M1insFs

c.3dupG

2 papers

NM_001242896.3

p.M1insFs

c.2dupT

1 paper

NM_001242896.3

p.M1L

c.1A>C

1 paper

NM_001242896.3

p.M1L

c.1A>T

7 papers

NM_001242896.3

p.Y7C

c.20A>G

11 papers

NM_001242896.3

p.Y7*

c.21C>A

14 papers

NM_001242896.3

p.Y7*

c.21C>G