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

2 papers

NM_001242896.3

p.R1087Q

c.3260G>A

Surrounding Variants

9 papers

NM_001242896.3

p.R1087*

c.3259C>T

1 paper

NM_001242896.3

p.K1088R

c.3263A>G

1 paper

NM_001242896.3

p.K1088K

c.3264G>A

1 paper

NM_001136029.4

p.D1075fs

c.3223_3224fs

1 paper

NM_001242896.3

p.Y1082*

c.3246C>A

1 paper

NM_001242896.3

p.Y1082*

c.3246C>G

6 papers

NM_001242896.3

p.T1081P

c.3241A>C

2 papers

NM_001242896.3

p.A1077fs

c.3229_3230fs

1 paper

NM_001242896.3

p.A1077_M1078delFs

c.3230_3234del5

7 papers

NM_001242896.3

p.S1073R

c.3219C>A

7 papers

NM_001242896.3

p.S1073R

c.3219C>G

7 papers

NM_001242896.3

p.S1073R

c.3217A>C