Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.S1635*

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.S1635*
c.4904C>A
Surrounding Variants
1 paper
NM_030665.4
p.S1635*
c.4904C>G
1 paper
NM_030665.4
p.S1639L
c.4916C>T
1 paper
NM_030665.4
p.A1631S
c.4891G>T
1 paper
NM_030665.4
p.A1645_G1646delFs
c.4933_4936del4
3 papers
NM_030665.4
p.A1645fs
c.4933_4934fs
1 paper
NM_030665.4
p.A1650_G1654insFs
c.4949_4961dup13
1 paper
NM_030665.4
p.P1653L
c.4958C>T
1 paper
NM_030665.4
p.G1655fs
c.4963_4964fs
1 paper
NM_030665.4
p.T1609I
c.4826C>T
1 paper
NM_030665.4
p.D1605fs
c.4813_4814fs
1 paper
NM_030665.4
p.L1666V
c.4996C>G
3 papers
NM_030665.4
p.R1604*
c.4810C>T
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