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.Q1272*

c.3814C>T

Surrounding Variants

1 paper

NM_001242896.3

p.Q1273*

c.3817C>T

1 paper

NM_001242896.3

p.A1287T

c.3859G>A

1 paper

NM_001242896.3

p.Q1290*

c.3868C>T

1 paper

NM_001242896.3

p.R1291fs

c.3871_3872fs

1 paper

NM_001242896.3

p.E1295K

c.3883G>A

2 papers

NM_001242896.3

p.V1296_V1299del4

c.3886_3896del12

1 paper

NM_001242896.3

p.Y1323C

c.3968A>G

14 papers

NM_001242896.3

p.R1332*

c.3994C>T

1 paper

NM_001242896.3

p.A1341delFs

c.4022delC

1 paper

NM_001242896.3

p.L1344*

c.4031T>A

1 paper

NM_001242896.3

p.L1344*

c.4031T>G

4 papers

NM_001242896.3

p.A1345Splc

c.4033+5A>G