Varaico: Literature-Extracted Genetic Variants

PRICKLE2

95 papers

RefSeq Summary

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene ...

Pfam Domains

PETaa 18–119UCSCPET Domain

LIMaa 130–191UCSCLIM domain

LIMaa 195–251UCSCLIM domain

LIMaa 255–312UCSCLIM domain

Gene Aliases

HGNC Name

prickle planar cell polarity protein 2

HGNC Alias Symbol

DKFZp686D143

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198859.4

p.G432G

c.1296G>T

Surrounding Variants

1 paper

NM_198859.4

p.Q433P

c.1298A>C

1 paper

NM_198859.4

p.S429delFs

c.1286_1287delAC

1 paper

NM_198859.4

p.S429fs

c.1285_1286fs

1 paper

NM_198859.4

p.Q438H

c.1314G>T

1 paper

NM_198859.4

p.Q438H

c.1314G>C

1 paper

NM_198859.4

p.K444R

c.1331A>G

1 paper

NM_198859.4

p.R390Q

c.1169G>A

1 paper

NM_198859.4

p.Y483Y

c.1449C>T

1 paper

NM_198859.4

p.L381M

c.1141C>A

1 paper

NM_198859.4

p.S380N

c.1139G>A

1 paper

NM_198859.4

p.M376I

c.1128G>T

1 paper

NM_198859.4

p.M376I

c.1128G>C