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

2 papers

NM_014991.6

p.C288F

c.863G>T

Surrounding Variants

1 paper

NM_014991.6

p.D292insFs

c.874_875insA

1 paper

NM_014991.6

p.S294N

c.881G>A

1 paper

NM_014991.6

p.E281*

c.841G>T

1 paper

NM_014991.6

p.T299insFs

c.896_897insC

1 paper

NM_014991.6

p.R305W

c.913C>T

1 paper

NM_014991.6

p.R305Q

c.914G>A

1 paper

NM_014991.6

p.Q270*

c.808C>T

1 paper

NM_014991.6

p.Q266delFs

c.797delT

1 paper

NM_014991.6

p.Y310C

c.929A>G

1 paper

NM_014991.6

p.Q266R

c.797A>G

1 paper

NM_014991.6

p.L313fs

c.937_938fs

1 paper

NM_014991.6

p.R319Splc

c.957-2A>G