Varaico: Literature-Extracted Genetic Variants

VPS41

127 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

Beta-prop_Vps41aa 30–359UCSCVps42 beta-propeller

TPR_Vps41aa 396–728UCSCVps41 TPR-like region

zf-RING_Vps41aa 789–840UCSCVps41 C-terminal RING finger domain

Gene Aliases

HGNC Name

VPS41 subunit of HOPS complex

HGNC Alias Symbol

HVSP41

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014396.4

p.Y620*

c.1860T>G

Surrounding Variants

1 paper

NM_014396.4

p.Y620*

c.1860T>A

1 paper

NM_014396.4

p.R625*

c.1873C>T

1 paper

NM_014396.4

p.L629H

c.1886T>A

1 paper

NM_014396.4

p.R611H

c.1832G>A

1 paper

NM_014396.4

p.R633*

c.1897C>T

1 paper

NM_014396.4

p.R633P

c.1898G>C

1 paper

NM_014396.4

p.R633Q

c.1898G>A

1 paper

NM_014396.4

p.H637Y

c.1909C>T

1 paper

NM_014396.4

p.F602S

c.1805T>C

1 paper

NM_014396.4

p.H595Q

c.1785T>G

1 paper

NM_014396.4

p.Q594*

c.1780C>T

1 paper

NM_014396.4

p.E586*

c.1756G>T