Varaico: Literature-Extracted Genetic Variants

WDFY1

30 papers

RefSeq Summary

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it local...

Pfam Domains

WD40aa 14–51UCSCWD domain, G-beta repeat

WD40aa 104–140UCSCWD domain, G-beta repeat

WD40aa 189–227UCSCWD domain, G-beta repeat

WD40aa 231–270UCSCWD domain, G-beta repeat

FYVEaa 280–353UCSCFYVE zinc finger

WD40aa 356–394UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat and FYVE domain containing 1

HGNC Alias Symbols

KIAA1435; FENS-1; WDF1; ZFYVE17

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020830.5

p.A404V

c.1211C>T

Surrounding Variants

1 paper

NM_020830.5

p.R388H

c.1163G>A

1 paper

NM_020830.5

p.D387N

c.1159G>A

1 paper

NM_020830.5

p.M374_I376del3

c.1120_1127del9

1 paper

NM_020830.5

p.R329P

c.986G>C

1 paper

NM_020830.5

p.Q311_H312Splc

c.934-1G>A