Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE3
Variant:p.P118H

PRICKLE3

59 papers

RefSeq Summary

LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein int...

Pfam Domains

PETaa 74–175UCSCPET Domain
LIMaa 186–247UCSCLIM domain
LIMaa 251–307UCSCLIM domain
LIMaa 311–368UCSCLIM domain

Gene Aliases

HGNC Name

prickle planar cell polarity protein 3

HGNC Previous Symbol

LMO6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006150.5
p.P118H
c.353C>A
Surrounding Variants
1 paper
NM_006150.5
p.P118_Y119insGT
c.352_356ins6
1 paper
NM_006150.5
p.K116_P118del0
c.346_354del9
1 paper
NM_006150.5
p.Q107E
c.319C>G
1 paper
NM_006150.5
p.L133R
c.398T>G
1 paper
NM_006150.5
p.E142*
c.424G>T
1 paper
NM_006150.5
p.L157F
c.469C>T
1 paper
NM_006150.5
p.L157H
c.470T>A
1 paper
NM_006150.5
p.A143_L157del15
c.427_470del45
1 paper
NM_006150.5
p.Q144_R158del15
c.430_473del45
3 papers
NM_006150.5
p.R175C
c.523C>T
1 paper
NM_006150.5
p.K191Q
c.571A>C
1 paper
NM_006150.5
p.I198T
c.593T>C
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