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

1–12 of 20 variants

2 papers

NM_020830.5

p.E44K

c.130G>A

2 papers

NM_020830.5

p.A404V

c.1211C>T

1 paper

NM_020830.5

p.R13L

c.38G>T

1 paper

NM_020830.5

p.D55N

c.163G>A

1 paper

NM_020830.5

p.S69C

c.206C>G

1 paper

NM_020830.5

p.A75D

c.224C>A

1 paper

NM_020830.5

p.A125_T126del1

c.374_376delTGG

1 paper

NM_020830.5

p.T143T

c.429G>A

1 paper

NM_020830.5

p.Q162Splc

c.485+6C>T

1 paper

NM_020830.5

p.S216*

c.647C>G

1 paper

NM_020830.5

p.S216*

c.647C>A

1 paper

NM_020830.5

p.T235fs

c.703_704fs