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.E2532K

c.7594G>A

Surrounding Variants

1 paper

NM_014991.6

p.K2535_I2536Splc

c.7605+4T>C

1 paper

NM_014991.6

p.D2549E

c.7647T>G

1 paper

NM_014991.6

p.D2549E

c.7647T>A

2 papers

NM_014991.6

p.G2558S

c.7672G>A

1 paper

NM_014991.6

p.T2475I

c.7424C>T

1 paper

NM_014991.6

p.E2458insFs

c.7372_7373insGA

1 paper

NM_014991.6

p.S2459R

c.7377T>G

1 paper

NM_014991.6

p.S2459R

c.7377T>A

1 paper

NM_014991.6

p.S2459fs

c.7375_7376fs

1 paper

NM_014991.6

p.S2459R

c.7375A>C

1 paper

NM_014991.6

p.V2457_E2458insFs

c.7371_7372insGA

1 paper

NM_014991.6

p.V2433I

c.7297G>A