Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.L183fs

RAI1

320 papers

RefSeq Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein en...

Pfam Domains

zf-HC5HC2Haa 1825–1903UCSCPHD-like zinc-binding domain

Gene Aliases

HGNC Name

retinoic acid induced 1

HGNC Alias Symbols

DKFZP434A139; KIAA1820; MGC12824

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_030665.4
p.L183fs
c.547_548fs
Surrounding Variants
5 papers
NM_030665.4
p.L183delFs
c.548delT
1 paper
NM_030665.4
p.P179P
c.537C>T
1 paper
NM_030665.4
p.Q174*
c.520C>T
6 papers
NM_030665.4
p.Q174fs
c.520_521fs
1 paper
NM_030665.4
p.V173G
c.518T>G
4 papers
NM_030665.4
p.V173insFs
c.518_519insG
1 paper
NM_030665.4
p.V173I
c.517G>A
1 paper
NM_030665.4
p.V173delFs
c.518delT
1 paper
NM_030665.4
p.V173fs
c.517_518fs
1 paper
NM_030665.4
p.L171insFs
c.512_513insGC
1 paper
NM_030665.4
p.H172_V173delFs
c.514_517del4
3 papers
NM_030665.4
p.R167W
c.499C>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."