Varaico: Literature-Extracted Genetic Variants

WDFY3

247 papers

RefSeq Summary

This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to coloc...

Pfam Domains

Arm_4aa 614–935UCSCArmadillo-like repeats

PH_BEACHaa 2592–2656UCSCPH domain associated with Beige/BEACH

Beachaa 2696–2976UCSCBeige/BEACH domain

WD40aa 3117–3155UCSCWD domain, G-beta repeat

WD40aa 3202–3245UCSCWD domain, G-beta repeat

FYVEaa 3450–3515UCSCFYVE zinc finger

Gene Aliases

HGNC Name

WD repeat and FYVE domain containing 3

HGNC Alias Symbols

KIAA0993; ALFY; ZFYVE25

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014991.6

p.R244L

c.731G>T

Surrounding Variants

1 paper

NM_014991.6

p.M240V

c.718A>G

2 papers

NM_014991.6

p.N250S

c.749A>G

2 papers

NM_014991.6

p.Y254D

c.760T>G

1 paper

NM_014991.6

p.Y254H

c.760T>C

1 paper

NM_014991.6

p.I255I

c.765T>C

1 paper

NM_014991.6

p.W231*

c.693G>A

1 paper

NM_014991.6

p.W231*

c.692G>A

1 paper

NM_014991.6

p.A219S

c.655G>T

1 paper

NM_014991.6

p.Q214insFs

c.641_642insT

1 paper

NM_014991.6

p.K210N

c.630A>T

1 paper

NM_014991.6

p.K210N

c.630A>C

1 paper

NM_014991.6

p.V201A

c.602T>C