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.A2407V

c.7220C>T

Surrounding Variants

1 paper

NM_014991.6

p.V2397M

c.7189G>A

1 paper

NM_014991.6

p.R2386*

c.7156C>T

1 paper

NM_014991.6

p.R2319H

c.6956G>A

1 paper

NM_014991.6

p.S2308L

c.6923C>T

1 paper

NM_014991.6

p.R2289I

c.6866G>T

1 paper

NM_014991.6

p.G2279A

c.6836G>C

1 paper

NM_014991.6

p.S2274F

c.6821C>T

1 paper

NM_014991.6

p.I2259V

c.6775A>G

1 paper

NM_014991.6

p.K2246R

c.6737A>G

1 paper

NM_014991.6

p.V2231M

c.6691G>A

1 paper

NM_014991.6

p.H2209N

c.6625C>A

1 paper

NM_014991.6

p.W2204R

c.6610T>C