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.T409delFs

c.1225delA

Surrounding Variants

1 paper

NM_001242896.3

p.S410T

c.1228T>A

1 paper

NM_001242896.3

p.S410_K411delFs

c.1230_1231delCA

1 paper

NM_001242896.3

p.K411_N417del7

c.1231_1250del21

1 paper

NM_001242896.3

p.S406Splc

c.1218-1G>C

1 paper

NM_001242896.3

p.Q413*

c.1237C>T

1 paper

NM_001242896.3

p.R422_I423ins4

c.1264_1268ins12

18 papers

NM_001242896.3

p.R422*

c.1264C>T

4 papers

NM_001242896.3

p.R422Q

c.1265G>A

1 paper

NM_001242896.3

p.I423_A426del4

c.1267_1277del12

1 paper

NM_001242896.3

p.K424insFs

c.1270dupA

1 paper

NM_001242896.3

p.K429_P430Splc

c.1287+1G>A

1 paper

NM_001242896.3

p.K429_P430Splc

c.1287+1G>C