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.T255T

c.765G>C

Surrounding Variants

1 paper

NM_004712.5

p.E260A

c.779A>C

1 paper

NM_004712.5

p.P250H

c.749C>A

1 paper

NM_004712.5

p.E261Q

c.781G>C

1 paper

NM_004712.5

p.Q247_L248Splc

c.742-1G>C

1 paper

NM_004712.5

p.Q247_L248Splc

c.742-1G>T

3 papers

NM_004712.5

p.S270A

c.808T>G

1 paper

NM_004712.5

p.S272A

c.814T>G

1 paper

NM_004712.5

p.E273A

c.818A>C

1 paper

NM_004712.5

p.A274S

c.820G>T

1 paper

NM_004712.5

p.A274E

c.821C>A

1 paper

NM_004712.5

p.L280R

c.839T>G

1 paper

NM_004712.5

p.Q247E

c.739C>G