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

1–12 of 128 variants

3 papers

NM_004712.5

p.S270A

c.808T>G

2 papers

NM_004712.5

p.H181Y

c.541C>T

2 papers

NM_004712.5

p.C215S

c.643T>A

2 papers

NM_004712.5

p.C215S

c.644G>C

2 papers

NM_004712.5

p.N370S

c.1109A>G

2 papers

NM_004712.5

p.Y608Y

c.1824C>T

1 paper

NM_004712.5

p.M1I

c.3G>A

1 paper

NM_004712.5

p.G2W

c.4G>T

1 paper

NM_004712.5

p.S5C

c.13A>T

1 paper

NM_004712.5

p.T7insFs

c.20_21insTG

1 paper

NM_004712.5

p.L11F

c.31C>T

1 paper

NM_004712.5

p.L12P

c.35T>C