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.K521R

c.1562A>G

Surrounding Variants

1 paper

NM_004712.5

p.K513*

c.1537A>T

1 paper

NM_004712.5

p.Q512*

c.1534C>T

1 paper

NM_004712.5

p.E501D

c.1503G>C

1 paper

NM_004712.5

p.R497W

c.1489C>T

1 paper

NM_004712.5

p.L525L

c.1575G>A

1 paper

NM_004712.5

p.E490Q

c.1468G>C

1 paper

NM_004712.5

p.V527A

c.1580T>C

1 paper

NM_004712.5

p.Q528E

c.1582C>G

1 paper

NM_004712.5

p.S485N

c.1454G>A

1 paper

NM_004712.5

p.A483delFs

c.1447delG

1 paper

NM_004712.5

p.Q476delFs

c.1426delC

1 paper

NM_004712.5

p.E542K

c.1624G>A