Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.D783N

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.D783N
c.2347G>A
Surrounding Variants
3 papers
NM_030665.4
p.G778fs
c.2332_2333fs
3 papers
NM_030665.4
p.G778_I779delFs
c.2332_2336del5
1 paper
NM_030665.4
p.A789delFs
c.2366delC
6 papers
NM_030665.4
p.P799insFs
c.2396dupC
8 papers
NM_030665.4
p.G800fs
c.2398_2399fs
1 paper
NM_030665.4
p.E801_L806del6
c.2401_2417del18
1 paper
NM_030665.4
p.S805L
c.2414C>T
6 papers
NM_030665.4
p.W758*
c.2274G>A
7 papers
NM_030665.4
p.W758*
c.2273G>A
1 paper
NM_030665.4
p.G808R
c.2422G>A
1 paper
NM_030665.4
p.G808R
c.2422G>C
1 paper
NM_030665.4
p.P756P
c.2268C>T
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