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.V1017I

c.3049G>A

Surrounding Variants

1 paper

NM_014991.6

p.L1019R

c.3056T>G

2 papers

NM_014991.6

p.G1014R

c.3040G>C

2 papers

NM_014991.6

p.G1014R

c.3040G>A

1 paper

NM_014991.6

p.E1013K

c.3037G>A

1 paper

NM_014991.6

p.M1028I

c.3084G>T

1 paper

NM_014991.6

p.M1028I

c.3084G>C

1 paper

NM_014991.6

p.M1028I

c.3084G>A

1 paper

NM_014991.6

p.R1003W

c.3007C>T

1 paper

NM_014991.6

p.D1049H

c.3145G>C

1 paper

NM_014991.6

p.T983T

c.2949A>G

8 papers

NM_014991.6

p.R978*

c.2932A>T

1 paper

NM_014991.6

p.H966Q

c.2898C>G