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.S612delFs

c.1834_1835delTC

Surrounding Variants

1 paper

NM_001242896.3

p.S612fs

c.1834_1835fs

1 paper

NM_001242896.3

p.R615delFs

c.1845delG

2 papers

NM_001242896.3

p.R615fs

c.1843_1844fs

1 paper

NM_001242896.3

p.M608V

c.1822A>G

1 paper

NM_001242896.3

p.P607H

c.1820C>A

1 paper

NM_001242896.3

p.M618V

c.1852A>G

1 paper

NM_001242896.3

p.R605Q

c.1814G>A

1 paper

NM_001242896.3

p.R605W

c.1813C>T

1 paper

NM_001242896.3

p.P593S

c.1777C>T

1 paper

NM_001242896.3

p.R587L

c.1760G>T

13 papers

NM_001242896.3

p.R587*

c.1759C>T

3 papers

NM_001242896.3

p.L584fs

c.1750_1751fs