Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.D49N

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
1 paper
NM_030665.4
p.D49N
c.145G>A
Surrounding Variants
1 paper
NM_030665.4
p.A47G
c.140C>G
1 paper
NM_030665.4
p.P57P
c.171G>A
1 paper
NM_030665.4
p.S58insFs
c.173_174insT
1 paper
NM_030665.4
p.G37R
c.109G>A
1 paper
NM_030665.4
p.G37R
c.109G>C
1 paper
NM_030665.4
p.G37W
c.109G>T
1 paper
NM_030665.4
p.T65M
c.194C>T
1 paper
NM_030665.4
p.Q32E
c.94C>G
1 paper
NM_030665.4
p.Q32*
c.94C>T
1 paper
NM_030665.4
p.A70A
c.210A>T
1 paper
NM_030665.4
p.A75S
c.223G>T
1 paper
NM_030665.4
p.H79delFs
c.235delC
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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."