Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.R960*

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
21 papers
NM_030665.4
p.R960*
c.2878C>T
Surrounding Variants
1 paper
NM_030665.4
p.R960delFs
c.2879delG
6 papers
NM_030665.4
p.D957fs
c.2869_2870fs
4 papers
NM_030665.4
p.D957insFs
c.2869_2870insGG
1 paper
NM_030665.4
p.E954E
c.2862G>A
1 paper
NM_030665.4
p.G952D
c.2855G>A
1 paper
NM_030665.4
p.S968L
c.2903C>T
2 papers
NM_030665.4
p.D969D
c.2907C>T
6 papers
NM_030665.4
p.L946fs
c.2836_2837fs
3 papers
NM_030665.4
p.L946delFs
c.2836_2837delCT
1 paper
NM_030665.4
p.S940N
c.2819G>A
1 paper
NM_030665.4
p.E983K
c.2947G>A
1 paper
NM_030665.4
p.A984V
c.2951C>T
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