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.I1832fs

c.5494_5495fs

Surrounding Variants

1 paper

NM_014991.6

p.I1832delFs

c.5494delT

1 paper

NM_014991.6

p.L1842fs

c.5524_5525fs

2 papers

NM_014991.6

p.L1842insFs

c.5524dupT

1 paper

NM_014991.6

p.L1842fs

c.5524_5525fs

1 paper

NM_014991.6

p.R1848C

c.5542C>T

1 paper

NM_014991.6

p.S1849G

c.5545A>G

1 paper

NM_014991.6

p.D1812V

c.5435A>T

1 paper

NM_014991.6

p.W1863L

c.5588G>T

1 paper

NM_014991.6

p.F1875L

c.5623T>C

1 paper

NM_014991.6

p.F1875L

c.5625C>G

1 paper

NM_014991.6

p.F1875L

c.5625C>A

1 paper

NM_014991.6

p.V1902I

c.5704G>A