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.A327T

c.979G>A

Surrounding Variants

1 paper

NM_004712.5

p.Y329F

c.986A>T

1 paper

NM_004712.5

p.Y334F

c.1001A>T

1 paper

NM_004712.5

p.K338R

c.1013A>G

1 paper

NM_004712.5

p.R343H

c.1028G>A

1 paper

NM_004712.5

p.S349insFs

c.1045_1046insA

1 paper

NM_004712.5

p.V352L

c.1054G>C

1 paper

NM_004712.5

p.I322T

c.965T>C

1 paper

NM_004712.5

p.T355M

c.1064C>T

1 paper

NM_004712.5

p.P317fs

c.949_950fs

2 papers

NM_004712.5

p.N370S

c.1109A>G

1 paper

NM_004712.5

p.D380N

c.1138G>A

1 paper

NM_004712.5

p.D380A

c.1139A>C