Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.A1679V

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.A1679V
c.5036C>T
Surrounding Variants
1 paper
NM_030665.4
p.V1675L
c.5023G>C
1 paper
NM_030665.4
p.V1675L
c.5023G>T
1 paper
NM_030665.4
p.L1666V
c.4996C>G
1 paper
NM_030665.4
p.D1701N
c.5101G>A
1 paper
NM_030665.4
p.G1655fs
c.4963_4964fs
1 paper
NM_030665.4
p.P1653L
c.4958C>T
1 paper
NM_030665.4
p.H1710R
c.5129A>G
1 paper
NM_030665.4
p.A1650_G1654insFs
c.4949_4961dup13
3 papers
NM_030665.4
p.A1645fs
c.4933_4934fs
1 paper
NM_030665.4
p.A1645_G1646delFs
c.4933_4936del4
1 paper
NM_030665.4
p.K1718N
c.5154A>C
1 paper
NM_030665.4
p.K1718N
c.5154A>T
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