Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q156R

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.Q156R
c.467A>G
Surrounding Variants
1 paper
NM_030665.4
p.Q156H
c.468G>T
1 paper
NM_030665.4
p.A158S
c.472G>T
1 paper
NM_030665.4
p.A158V
c.473C>T
1 paper
NM_030665.4
p.S154fs
c.460_461fs
1 paper
NM_030665.4
p.P153fs
c.457_458fs
1 paper
NM_030665.4
p.P152T
c.454C>A
1 paper
NM_030665.4
p.P152_P153insFs
c.456_457ins4
1 paper
NM_030665.4
p.P153insFs
c.459dupC
1 paper
NM_030665.4
p.K148Q
c.442A>C
11 papers
NM_030665.4
p.P165T
c.493C>A
1 paper
NM_030665.4
p.P165H
c.494C>A
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."