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

1–12 of 38 variants

5 papers

NM_025129.5

p.P39S

c.115C>T

5 papers

NM_025129.5

p.D354Y

c.1060G>T

5 papers

NM_025129.5

p.R404Q

c.1211G>A

4 papers

NM_025129.5

p.R284P

c.851G>C

3 papers

NM_025129.5

p.R284L

c.851G>T

2 papers

NM_025129.5

p.S78N

c.233G>A

2 papers

NM_025129.5

p.S91F

c.272C>T

2 papers

NM_025129.5

p.G140E

c.419G>A

2 papers

NM_025129.5

p.S142T

c.424T>A

1 paper

NM_025129.5

p.V21A

c.62T>C

1 paper

NM_025129.5

p.G48V

c.143G>T

1 paper

NM_025129.5

p.V49I

c.145G>A