Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.S1733L

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.S1733L
c.5198C>T
Surrounding Variants
1 paper
NM_030665.4
p.K1722N
c.5166G>C
1 paper
NM_030665.4
p.K1722N
c.5166G>T
1 paper
NM_030665.4
p.K1720Q
c.5158A>C
1 paper
NM_030665.4
p.K1718N
c.5154A>C
1 paper
NM_030665.4
p.K1718N
c.5154A>T
1 paper
NM_030665.4
p.A1748A
c.5244C>T
2 papers
NM_030665.4
p.G1752R
c.5254G>A
2 papers
NM_030665.4
p.G1752R
c.5254G>C
1 paper
NM_030665.4
p.K1753fs
c.5257_5258fs
14 papers
NM_030665.4
p.P1755delFs
c.5265delC
4 papers
NM_030665.4
p.R1756fs
c.5266_5267fs
1 paper
NM_030665.4
p.H1710R
c.5129A>G
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