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.D39N

c.115G>A

Surrounding Variants

1 paper

NM_004712.5

p.Q41Splc

c.122+1G>A

1 paper

NM_004712.5

p.L34L

c.100C>T

1 paper

NM_004712.5

p.L29S

c.86T>C

1 paper

NM_004712.5

p.Q18L

c.53A>T

1 paper

NM_004712.5

p.T16insFs

c.46_47ins10

1 paper

NM_004712.5

p.K50K

c.150G>A

1 paper

NM_004712.5

p.N54H

c.160A>C

1 paper

NM_004712.5

p.P58fs

c.172_173fs

1 paper

NM_004712.5

p.E66_V67Splc

c.198+1G>A

1 paper

NM_004712.5

p.V67D

c.200T>A

1 paper

NM_004712.5

p.V72G

c.215T>G

1 paper

NM_004712.5

p.A84V

c.251C>T