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.S442F

c.1325C>T

Surrounding Variants

1 paper

NM_001242896.3

p.S442Splc

c.1325-1G>A

1 paper

NM_001242896.3

p.G444R

c.1330G>A

1 paper

NM_001242896.3

p.G444R

c.1330G>C

1 paper

NM_001242896.3

p.G444_S445insFs

c.1332_1333dupGA

2 papers

NM_001242896.3

p.S445N

c.1334G>A

3 papers

NM_001242896.3

p.E448*

c.1342G>T

1 paper

NM_001242896.3

p.E448A

c.1343A>C

12 papers

NM_001242896.3

p.A452V

c.1355C>T

1 paper

NM_001242896.3

p.Q456fs

c.1366_1367fs

1 paper

NM_001242896.3

p.D458delFs

c.1372delG

1 paper

NM_001242896.3

p.D458H

c.1372G>C

1 paper

NM_001242896.3

p.Y459insFs

c.1375_1376dupTA