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.Q1760*

c.5278C>T

Surrounding Variants

1 paper

NM_014991.6

p.C1751G

c.5251T>G

1 paper

NM_014991.6

p.P1770H

c.5309C>A

2 papers

NM_014991.6

p.R1748*

c.5242C>T

1 paper

NM_014991.6

p.Y1773C

c.5318A>G

1 paper

NM_014991.6

p.S1741L

c.5222C>T

1 paper

NM_014991.6

p.G1730Splc

c.5189-7C>G

1 paper

NM_014991.6

p.R1802Q

c.5405G>A

1 paper

NM_014991.6

p.S1803_K1804delFs

c.5409_5412del4

1 paper

NM_014991.6

p.S1803_K1804del2

c.5407_5411del6

1 paper

NM_014991.6

p.D1812V

c.5435A>T

1 paper

NM_014991.6

p.I1832delFs

c.5494delT

1 paper

NM_014991.6

p.I1832fs

c.5494_5495fs