Varaico: Literature-Extracted Genetic Variants

Gene:RIPPLY1
Variant:p.N121S

RIPPLY1

11 papers

RefSeq Summary

This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcri...

Pfam Domains

Ripplyaa 56–140UCSCTranscription Regulator

Gene Aliases

HGNC Name

ripply transcriptional repressor 1

HGNC Previous Name

ripply1 homolog (zebrafish)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138382.3
p.N121S
c.362A>G
Surrounding Variants
1 paper
NM_138382.3
p.I117N
c.350T>A
1 paper
NM_138382.3
p.L74L
c.220C>T
4 papers
NM_138382.3
p.W57*
c.171G>A
4 papers
NM_138382.3
p.W57*
c.170G>A
1 paper
NM_138382.3
p.R52Splc
c.156-1G>C
1 paper
NM_138382.3
p.L40del1
c.118_119delAAG
1 paper
NM_138382.3
p.A10S
c.28G>T
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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."