Varaico: Literature-Extracted Genetic Variants

HGS

255 papers

RefSeq Summary

The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane prot...

Pfam Domains

VHSaa 3–139UCSCVHS domain

FYVEaa 158–221UCSCFYVE zinc finger

Hrs_helicalaa 407–501UCSCHepatocyte growth factor-regulated tyrosine kinase substrate

Gene Aliases

HGNC Name

hepatocyte growth factor-regulated tyrosine kinase substrate

HGNC Alias Symbols

Hrs; ZFYVE8; Vps27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004712.5

p.T131_Y132del1

c.393_395delCTA

Surrounding Variants

1 paper

NM_004712.5

p.T131S

c.391A>T

1 paper

NM_004712.5

p.M135I

c.405G>A

1 paper

NM_004712.5

p.E138K

c.412G>A

1 paper

NM_004712.5

p.R120W

c.358C>T

1 paper

NM_004712.5

p.H117Q

c.351T>A

1 paper

NM_004712.5

p.Q113E

c.337C>G

1 paper

NM_004712.5

p.L111Q

c.332T>A

1 paper

NM_004712.5

p.Y110Y

c.330C>T

1 paper

NM_004712.5

p.R105P

c.314G>C

1 paper

NM_004712.5

p.V100delFs

c.298delG

1 paper

NM_004712.5

p.G139A

c.416G>C

1 paper

NM_004712.5

p.V141V

c.423C>G