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.P1100L

c.3299C>T

Surrounding Variants

1 paper

NM_001242896.3

p.R1101L

c.3302G>T

1 paper

NM_001242896.3

p.T1102I

c.3305C>T

12 papers

NM_001242896.3

p.S1104L

c.3311C>T

1 paper

NM_001242896.3

p.F1107L

c.3319T>C

1 paper

NM_001242896.3

p.F1107L

c.3321C>A

1 paper

NM_001242896.3

p.F1107L

c.3321C>G

1 paper

NM_001242896.3

p.F1093_A1103del11

c.3277_3308del33

1 paper

NM_001242896.3

p.A1091V

c.3272C>T

1 paper

NM_001242896.3

p.Q1110_V1111Splc

c.3330+5G>C

4 papers

NM_001242896.3

p.K1088_D1089Splc

c.3265-3C>T

1 paper

NM_001242896.3

p.K1088K

c.3264G>A

1 paper

NM_001242896.3

p.K1088R

c.3263A>G