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.A22V

c.65C>T

Surrounding Variants

1 paper

NM_014991.6

p.A22T

c.64G>A

1 paper

NM_014991.6

p.D20E

c.60C>G

1 paper

NM_014991.6

p.D20E

c.60C>A

1 paper

NM_014991.6

p.L25R

c.74T>G

1 paper

NM_014991.6

p.S17insFs

c.50dupG

1 paper

NM_014991.6

p.R29C

c.85C>T

2 papers

NM_014991.6

p.R40W

c.118C>T

1 paper

NM_014991.6

p.M3V

c.7A>G

1 paper

NM_014991.6

p.M1insFs

c.3dupG

1 paper

NM_014991.6

p.M1I

c.3G>A

1 paper

NM_014991.6

p.Y52fs

c.154_155fs

1 paper

NM_014991.6

p.L51_Y52insFs

c.153_154dupGT