Varaico: Literature-Extracted Genetic Variants

VPS11

82 papers

RefSeq Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sort...

Pfam Domains

PEP5_VPS11_Naa 7–354UCSCPEP5/VPS11 N-terminal

TPR_PEP5_VPS11aa 399–758UCSCPEP5/VPS11 Clathrin repeat

zf-C3HC4_2aa 821–860UCSCZinc finger, C3HC4 type (RING finger)

VPS11_Caa 864–908UCSCVacuolar protein sorting protein 11 C terminal

Gene Aliases

HGNC Name

VPS11 core subunit of CORVET and HOPS complexes

HGNC Alias Symbols

RNF108; PEP5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

20 papers

NM_021729.6

p.C846G

c.2536T>G

14 papers

NM_021729.6

p.Y282*

c.846C>G

3 papers

NM_021729.6

p.G395del1

c.1183_1184delGGA

3 papers

NM_021729.6

p.H835R

c.2504A>G

2 papers

NM_021729.6

p.F10L

c.28T>C

2 papers

NM_021729.6

p.F10L

c.30C>A

2 papers

NM_021729.6

p.F10L

c.30C>G

2 papers

NM_021729.6

p.L22V

c.64C>G

2 papers

NM_021729.6

p.P46S

c.136C>T

2 papers

NM_021729.6

p.S74insFs

c.220_221insC

2 papers

NM_021729.6

p.S74fs

c.220_221fs

2 papers

NM_021729.6

p.R290W

c.868C>T