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

3 papers

NM_014991.6

p.K488M

c.1463A>T

Surrounding Variants

1 paper

NM_014991.6

p.T490I

c.1469C>T

2 papers

NM_014991.6

p.I495V

c.1483A>G

1 paper

NM_014991.6

p.R501G

c.1501A>G

1 paper

NM_014991.6

p.S465R

c.1395T>G

1 paper

NM_014991.6

p.S465R

c.1395T>A

1 paper

NM_014991.6

p.S465R

c.1393A>C

2 papers

NM_014991.6

p.E462D

c.1386A>T

1 paper

NM_014991.6

p.E462D

c.1386A>C

1 paper

NM_014991.6

p.F453L

c.1359T>G

1 paper

NM_014991.6

p.F453L

c.1359T>A

1 paper

NM_014991.6

p.F453L

c.1357T>C

1 paper

NM_014991.6

p.F445I

c.1333T>A