Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.D277_Q278insFs

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.D277_Q278insFs
c.831_832ins5
Surrounding Variants
1 paper
NM_030665.4
p.Q290_Q291ins0
c.870_872dupGCA
1 paper
NM_030665.4
p.Q289_Q291ins1
c.867_872dup6
11 papers
NM_030665.4
p.Q278del1
c.832_834delCAG
3 papers
NM_030665.4
p.Q278_Q279del0
c.832_837del6
3 papers
NM_030665.4
p.Q278_Q280del3
c.832_839del9
3 papers
NM_030665.4
p.Q278_Q281del0
c.832_843del12
1 paper
NM_030665.4
p.D277fs
c.829_830fs
2 papers
NM_030665.4
p.Q278H
c.834G>C
2 papers
NM_030665.4
p.Q278_Q279ins1
c.834_835insCAA
2 papers
NM_030665.4
p.Q278H
c.834G>T
1 paper
NM_030665.4
p.Q279fs
c.835_836fs
1 paper
NM_030665.4
p.Q279_Q280delFs
c.837_838delGC
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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."