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.R2596K

c.7787G>A

Surrounding Variants

2 papers

NM_014991.6

p.G2558S

c.7672G>A

1 paper

NM_014991.6

p.D2549E

c.7647T>G

1 paper

NM_014991.6

p.D2549E

c.7647T>A

1 paper

NM_014991.6

p.G2636E

c.7907G>A

5 papers

NM_014991.6

p.R2637W

c.7909C>T

1 paper

NM_014991.6

p.F2655_L2656del2

c.7963_7967del6

1 paper

NM_014991.6

p.A2657V

c.7970C>T

1 paper

NM_014991.6

p.V2658L

c.7972G>T

1 paper

NM_014991.6

p.V2658L

c.7972G>C

1 paper

NM_014991.6

p.R2673Q

c.8018G>A

1 paper

NM_014991.6

p.T2676fs

c.8026_8027fs

1 paper

NM_014991.6

p.S2677fs

c.8029_8030fs