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

13 papers

NM_001242896.3

p.R487*

c.1459C>T

Surrounding Variants

1 paper

NM_001242896.3

p.R487Q

c.1460G>A

9 papers

NM_001242896.3

p.R485Q

c.1454G>A

5 papers

NM_001242896.3

p.R485*

c.1453C>T

1 paper

NM_001242896.3

p.S489N

c.1466G>A

7 papers

NM_001242896.3

p.R492*

c.1474C>T

1 paper

NM_001242896.3

p.S503S

c.1509C>T

2 papers

NM_001242896.3

p.R509C

c.1525C>T

1 paper

NM_001242896.3

p.R509H

c.1526G>A

1 paper

NM_001242896.3

p.R509L

c.1526G>T

1 paper

NM_001242896.3

p.P512H

c.1535C>A

1 paper

NM_001242896.3

p.E514delFs

c.1542delG

1 paper

NM_001242896.3

p.E515fs

c.1543_1544fs