Varaico: Literature-Extracted Genetic Variants

FUZ

38 papers

RefSeq Summary

This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations...

Pfam Domains

Fuz_longin_1aa 1–88UCSCFirst Longin domain of FUZ, MON1 and HPS1

Fuz_longin_1aa 10–138UCSCFirst Longin domain of FUZ, MON1 and HPS1

Fuz_longin_2aa 174–269UCSCSecond Longin domain of FUZ, MON1 and HPS1

Fuz_longin_3aa 245–367UCSCThird Longin domain of FUZ, MON1 and HPS1

Gene Aliases

HGNC Name

fuzzy planar cell polarity protein

HGNC Alias Symbols

FLJ22688; Fy; CPLANE3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025129.5

p.R129_A130Splc

c.387+2T>A

Surrounding Variants

1 paper

NM_025129.5

p.V121M

c.361G>A

1 paper

NM_025129.5

p.N120delFs

c.358delT

1 paper

NM_025129.5

p.T116A

c.346A>G

1 paper

NM_025129.5

p.Y132delFs

c.394delA

2 papers

NM_025129.5

p.G140E

c.419G>A

2 papers

NM_025129.5

p.S142T

c.424T>A

2 papers

NM_025129.5

p.S91F

c.272C>T

2 papers

NM_025129.5

p.S78N

c.233G>A

1 paper

NM_025129.5

p.S78Splc

c.233+1G>A

1 paper

NM_025129.5

p.V49I

c.145G>A

1 paper

NM_025129.5

p.G48V

c.143G>T

5 papers

NM_025129.5

p.P39S

c.115C>T