Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.S342_S345delFs

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.S342_S345delFs
c.1026_1033del8
Surrounding Variants
1 paper
NM_030665.4
p.R352C
c.1054C>T
1 paper
NM_030665.4
p.V328I
c.982G>A
1 paper
NM_030665.4
p.S357insFs
c.1069_1070insC
2 papers
NM_030665.4
p.S357fs
c.1069_1070fs
1 paper
NM_030665.4
p.A326T
c.976G>A
1 paper
NM_030665.4
p.P324L
c.971C>T
1 paper
NM_030665.4
p.Y321delins
c.961delinsC
1 paper
NM_030665.4
p.Y321D
c.961T>G
1 paper
NM_030665.4
p.P365Q
c.1094C>A
1 paper
NM_030665.4
p.G315R
c.943G>A
1 paper
NM_030665.4
p.G315R
c.943G>C
1 paper
NM_030665.4
p.G315W
c.943G>T
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