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.M2756I

c.8268G>A

Surrounding Variants

2 papers

NM_014991.6

p.M2756I

c.8268G>T

2 papers

NM_014991.6

p.M2756I

c.8268G>C

1 paper

NM_014991.6

p.A2758T

c.8272G>A

1 paper

NM_014991.6

p.K2754*

c.8260A>T

1 paper

NM_014991.6

p.Q2759H

c.8277A>T

1 paper

NM_014991.6

p.Q2759H

c.8277A>C

1 paper

NM_014991.6

p.R2763Q

c.8288G>A

1 paper

NM_014991.6

p.K2747fs

c.8239_8240fs

1 paper

NM_014991.6

p.W2774R

c.8320T>C

1 paper

NM_014991.6

p.W2774R

c.8320T>A

2 papers

NM_014991.6

p.Q2814R

c.8441A>G

1 paper

NM_014991.6

p.G2815C

c.8443G>T