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.F145I

c.433T>A

Surrounding Variants

1 paper

NM_004712.5

p.F142_P143del1

c.425_427delTTC

1 paper

NM_004712.5

p.V141V

c.423C>G

1 paper

NM_004712.5

p.G139A

c.416G>C

1 paper

NM_004712.5

p.F152S

c.455T>C

1 paper

NM_004712.5

p.A157S

c.469G>T

1 paper

NM_004712.5

p.C166W

c.498C>G

2 papers

NM_004712.5

p.H181Y

c.541C>T

1 paper

NM_004712.5

p.K192M

c.575A>T

1 paper

NM_004712.5

p.S195S

c.585C>T

1 paper

NM_004712.5

p.V211L

c.631G>T

1 paper

NM_004712.5

p.P214S

c.640C>T

2 papers

NM_004712.5

p.C215S

c.643T>A