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

1–12 of 389 variants

8 papers

NM_014991.6

p.R978*

c.2932A>T

8 papers

NM_014991.6

p.R1128*

c.3382C>T

5 papers

NM_014991.6

p.R2637W

c.7909C>T

3 papers

NM_014991.6

p.K488M

c.1463A>T

3 papers

NM_014991.6

p.Q1760*

c.5278C>T

3 papers

NM_014991.6

p.A3133T

c.9397G>A

2 papers

NM_014991.6

p.R40W

c.118C>T

2 papers

NM_014991.6

p.N250S

c.749A>G

2 papers

NM_014991.6

p.Y254D

c.760T>G

2 papers

NM_014991.6

p.C288F

c.863G>T

2 papers

NM_014991.6

p.P364S

c.1090C>T

2 papers

NM_014991.6

p.E462D

c.1386A>T