Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.L85_L91delFs

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
3 papers
NM_030665.4
p.L85_L91delFs
c.253_271del19
Surrounding Variants
1 paper
NM_030665.4
p.G81_S82insFs
c.243_244insC
7 papers
NM_030665.4
p.R80*
c.238C>T
1 paper
NM_030665.4
p.H79delFs
c.235delC
4 papers
NM_030665.4
p.L85fs
c.253_254fs
1 paper
NM_030665.4
p.A75S
c.223G>T
3 papers
NM_030665.4
p.Q88*
c.262C>T
11 papers
NM_030665.4
p.G90A
c.269G>C
1 paper
NM_030665.4
p.A70A
c.210A>T
6 papers
NM_030665.4
p.G93delFs
c.278delG
2 papers
NM_030665.4
p.G93delFs
c.278_279delGG
2 papers
NM_030665.4
p.G93_R94delFs
c.278_281del4
1 paper
NM_030665.4
p.G93_R94del1
c.278_280delGGA
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