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.T216T

c.648C>T

Surrounding Variants

1 paper

NM_025129.5

p.V209_L212del0

c.625_636del12

1 paper

NM_025129.5

p.L212L

c.636G>A

1 paper

NM_025129.5

p.E201K

c.601G>A

1 paper

NM_025129.5

p.T176T

c.528G>A

1 paper

NM_025129.5

p.L236L

c.708G>C

1 paper

NM_025129.5

p.R266H

c.797G>A

1 paper

NM_025129.5

p.L272L

c.816G>C

1 paper

NM_025129.5

p.D273E

c.819C>G

1 paper

NM_025129.5

p.D273E

c.819C>A

3 papers

NM_025129.5

p.R284L

c.851G>T

1 paper

NM_025129.5

p.R284insFs

c.850dupC

4 papers

NM_025129.5

p.R284P

c.851G>C