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

5 papers

NM_025129.5

p.D354Y

c.1060G>T

Surrounding Variants

1 paper

NM_025129.5

p.Q358del1

c.1072_1074delCTG

1 paper

NM_025129.5

p.R389L

c.1166G>T

1 paper

NM_025129.5

p.L394del1

c.1180_1181delCAG

1 paper

NM_025129.5

p.S395del1

c.1183_1185delAGA

5 papers

NM_025129.5

p.R404Q

c.1211G>A

1 paper

NM_025129.5

p.T340M

c.1019C>T

1 paper

NM_025129.5

p.R328H

c.983G>A

1 paper

NM_025129.5

p.G298Splc

c.894-1G>A

1 paper

NM_025129.5

p.G298Splc

c.894-2A>G

1 paper

NM_025129.5

p.R284fs

c.850_851fs

3 papers

NM_025129.5

p.R284L

c.851G>T

1 paper

NM_025129.5

p.R284insFs

c.850dupC