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.L242P

c.725T>C

Surrounding Variants

1 paper

NM_004712.5

p.S243A

c.727T>G

1 paper

NM_004712.5

p.S243Y

c.728C>A

1 paper

NM_004712.5

p.P241R

c.722C>G

1 paper

NM_004712.5

p.S240R

c.720C>A

1 paper

NM_004712.5

p.S240R

c.720C>G

1 paper

NM_004712.5

p.S240R

c.718A>C

1 paper

NM_004712.5

p.T239A

c.715A>G

1 paper

NM_004712.5

p.Q247E

c.739C>G

1 paper

NM_004712.5

p.P234S

c.700C>T

1 paper

NM_004712.5

p.R221Splc

c.663-1G>A

1 paper

NM_004712.5

p.R221Splc

c.663-1G>C

1 paper

NM_004712.5

p.Q247_L248Splc

c.742-1G>C