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.P2133L

c.6398C>T

Surrounding Variants

1 paper

NM_014991.6

p.P2133S

c.6397C>T

1 paper

NM_014991.6

p.S2142R

c.6424A>C

1 paper

NM_014991.6

p.S2142R

c.6426C>G

1 paper

NM_014991.6

p.S2142R

c.6426C>A

2 papers

NM_014991.6

p.L2116Q

c.6347T>A

1 paper

NM_014991.6

p.H2152R

c.6455A>G

1 paper

NM_014991.6

p.V2110I

c.6328G>A

1 paper

NM_014991.6

p.T2109I

c.6326C>T

1 paper

NM_014991.6

p.S2104L

c.6311C>T

1 paper

NM_014991.6

p.C2094Y

c.6281G>A

1 paper

NM_014991.6

p.R2082I

c.6245G>T

1 paper

NM_014991.6

p.R2081I

c.6242G>T