Varaico: Literature-Extracted Genetic Variants

Gene:PRICKLE4
Variant:p.L288L

PRICKLE4

24 papers

RefSeq Summary

C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008].

Gene Aliases

HGNC Name

prickle planar cell polarity protein 4

HGNC Previous Symbol

C6orf49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013397.6
p.L288L
c.864C>T
Surrounding Variants
1 paper
NM_013397.6
p.L288ins1
c.863_864insTCA
2 papers
NM_013397.6
p.L288ins1
c.862_863insCTT
1 paper
NM_013397.6
p.L287_L288ins1
c.861_862insATT
3 papers
NM_013397.6
p.L288ins1
c.863_864insTCT
1 paper
NM_013397.6
p.D268N
c.802G>A
1 paper
NM_013397.6
p.H380Q
c.1140C>A
1 paper
NM_013397.6
p.H380Q
c.1140C>G
2 papers
NM_013397.6
p.R244G
c.730C>G
1 paper
NM_013397.6
p.E211G
c.632A>G
2 papers
NM_013397.6
p.H210Q
c.630T>A
2 papers
NM_013397.6
p.H210Q
c.630T>G
1 paper
NM_013397.6
p.Q194_L195Splc
c.583-7C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."