Varaico: Literature-Extracted Genetic Variants

VPS16

109 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

Vps16_Naa 4–420UCSCVps16, N-terminal region

Vps16_Caa 517–835UCSCVps16, C-terminal region

Gene Aliases

HGNC Name

VPS16 core subunit of CORVET and HOPS complexes

HGNC Previous Names

vacuolar protein sorting 16 homolog (S. cerevisiae); VPS16, CORVET/HOPS core subunit

Papers

RefSeq ID

Protein change

DNA change

1–12 of 229 variants

15 papers

NM_022575.4

p.N52K

c.156C>A

15 papers

NM_022575.4

p.R187*

c.559C>T

13 papers

NM_022575.4

p.N52K

c.156C>G

13 papers

NM_022575.4

p.R635*

c.1903C>T

9 papers

NM_022575.4

p.R647*

c.1939C>T

7 papers

NM_022575.4

p.I146delFs

c.436delA

7 papers

NM_022575.4

p.R152_T154insFs

c.455_462dup8

7 papers

NM_022575.4

p.E365insFs

c.1094_1095dupAG

7 papers

NM_022575.4

p.Y445*

c.1335T>G

7 papers

NM_022575.4

p.R456Splc

c.1367+2T>C

7 papers

NM_022575.4

p.V574Splc

c.1720+1G>C

7 papers

NM_022575.4

p.N663insFs

c.1988_1989insG