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

8 papers

NM_014991.6

p.R1128*

c.3382C>T

Surrounding Variants

1 paper

NM_014991.6

p.P1119H

c.3356C>A

1 paper

NM_014991.6

p.P1097H

c.3290C>A

1 paper

NM_014991.6

p.G1090Splc

c.3269-5T>C

1 paper

NM_014991.6

p.I1087T

c.3260T>C

2 papers

NM_014991.6

p.G1081R

c.3241G>C

2 papers

NM_014991.6

p.G1081R

c.3241G>A

1 paper

NM_014991.6

p.T1070insFs

c.3208dupA

1 paper

NM_014991.6

p.L1060F

c.3180G>T

1 paper

NM_014991.6

p.L1060F

c.3180G>C

1 paper

NM_014991.6

p.L1060fs

c.3178_3179fs

1 paper

NM_014991.6

p.L1058P

c.3173T>C

1 paper

NM_014991.6

p.D1049H

c.3145G>C