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.H3140N

c.9418C>A

Surrounding Variants

3 papers

NM_014991.6

p.A3133T

c.9397G>A

1 paper

NM_014991.6

p.R3147C

c.9439C>T

1 paper

NM_014991.6

p.R3149*

c.9445C>T

1 paper

NM_014991.6

p.T3131A

c.9391A>G

1 paper

NM_014991.6

p.W3154C

c.9462G>T

1 paper

NM_014991.6

p.W3154C

c.9462G>C

1 paper

NM_014991.6

p.G3125C

c.9373G>T

1 paper

NM_014991.6

p.G3108C

c.9322G>T

1 paper

NM_014991.6

p.W3105C

c.9315G>T

1 paper

NM_014991.6

p.W3105C

c.9315G>C

1 paper

NM_014991.6

p.V3101G

c.9302T>G

1 paper

NM_014991.6

p.W3052C

c.9156G>T