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.A572D

c.1715C>A

Surrounding Variants

1 paper

NM_004712.5

p.A576V

c.1727C>T

1 paper

NM_004712.5

p.G578G

c.1734T>C

1 paper

NM_004712.5

p.V599E

c.1796T>A

2 papers

NM_004712.5

p.Y608Y

c.1824C>T

1 paper

NM_004712.5

p.R557P

c.1670G>C

1 paper

NM_004712.5

p.M556T

c.1667T>C

1 paper

NM_004712.5

p.Q555*

c.1663C>T

1 paper

NM_004712.5

p.A616T

c.1846G>A

1 paper

NM_004712.5

p.E542K

c.1624G>A

1 paper

NM_004712.5

p.E542Q

c.1624G>C

1 paper

NM_004712.5

p.E542*

c.1624G>T

1 paper

NM_004712.5

p.Q528E

c.1582C>G