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.R264delFs

c.790delA

Surrounding Variants

2 papers

NM_001242896.3

p.R264fs

c.790_791fs

2 papers

NM_001242896.3

p.R264I

c.791G>T

2 papers

NM_001242896.3

p.E265_E266delFs

c.793_797del5

1 paper

NM_001242896.3

p.E265fs

c.793_794fs

1 paper

NM_001242896.3

p.N261K

c.783T>A

1 paper

NM_001242896.3

p.N261K

c.783T>G

3 papers

NM_001242896.3

p.N261_E262delFs

c.783_786del4

4 papers

NM_001242896.3

p.N261fs

c.781_782fs

1 paper

NM_001242896.3

p.V257fs

c.769_770fs

1 paper

NM_001242896.3

p.L270F

c.808C>T

1 paper

NM_001242896.3

p.K256Splc

c.768-1G>A

1 paper

NM_001242896.3

p.V272I

c.814G>A