Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.R884delFs

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.R884delFs
c.2650_2651delAG
Surrounding Variants
1 paper
NM_030665.4
p.R884fs
c.2650_2651fs
7 papers
NM_030665.4
p.E882fs
c.2644_2645fs
4 papers
NM_030665.4
p.P881delFs
c.2643delC
1 paper
NM_030665.4
p.G879R
c.2635G>C
1 paper
NM_030665.4
p.D889Y
c.2665G>T
1 paper
NM_030665.4
p.K894_E903del10
c.2680_2708del30
2 papers
NM_030665.4
p.P896delFs
c.2687delC
1 paper
NM_030665.4
p.E870delFs
c.2610delG
1 paper
NM_030665.4
p.E870fs
c.2608_2609fs
1 paper
NM_030665.4
p.L865P
c.2594T>C
1 paper
NM_030665.4
p.K901*
c.2701A>T
1 paper
NM_030665.4
p.E902*
c.2704G>T
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