Varaico: Literature-Extracted Genetic Variants

PRICKLE1

150 papers

RefSeq Summary

This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nu...

Pfam Domains

PETaa 14–115UCSCPET Domain

LIMaa 126–187UCSCLIM domain

LIMaa 191–247UCSCLIM domain

LIMaa 251–308UCSCLIM domain

Gene Aliases

HGNC Name

prickle planar cell polarity protein 1

HGNC Alias Symbols

FLJ31937; EPM1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_153026.3

p.S739F

c.2216C>T

Surrounding Variants

2 papers

NM_153026.3

p.P746S

c.2236C>T

4 papers

NM_153026.3

p.G732R

c.2194G>C

4 papers

NM_153026.3

p.G732R

c.2194G>A

1 paper

NM_153026.3

p.L754P

c.2261T>C

1 paper

NM_153026.3

p.A718T

c.2152G>A

1 paper

NM_153026.3

p.D760del1

c.2278_2279delATC

1 paper

NM_153026.3

p.S765F

c.2294C>T

1 paper

NM_153026.3

p.E710D

c.2130G>T

1 paper

NM_153026.3

p.E710D

c.2130G>C

1 paper

NM_153026.3

p.S768_S769del1

c.2304_2306delGAG

1 paper

NM_153026.3

p.S766_S767del2

c.2296_2300del6

3 papers

NM_153026.3

p.D771N

c.2311G>A