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.D463D

c.1389C>T

Surrounding Variants

3 papers

NM_001242896.3

p.Y462C

c.1385A>G

1 paper

NM_001242896.3

p.Q465E

c.1393C>G

2 papers

NM_001242896.3

p.Q465*

c.1393C>T

1 paper

NM_001242896.3

p.Q465delFs

c.1394delA

1 paper

NM_001242896.3

p.Y462fs

c.1384_1385fs

1 paper

NM_001242896.3

p.Q465H

c.1395A>T

2 papers

NM_001242896.3

p.A461delFs

c.1383delC

1 paper

NM_001242896.3

p.A461_Y462del2

c.1381_1385del6

3 papers

NM_001242896.3

p.F467fs

c.1399_1400fs

1 paper

NM_001242896.3

p.F467insFs

c.1400_1401insGG

1 paper

NM_001242896.3

p.Y459insFs

c.1376_1377insAC

1 paper

NM_001242896.3

p.Y459H

c.1375T>C