Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.G93_R94delFs

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
2 papers
NM_030665.4
p.G93_R94delFs
c.278_281del4
Surrounding Variants
6 papers
NM_030665.4
p.G93delFs
c.278delG
2 papers
NM_030665.4
p.G93delFs
c.278_279delGG
1 paper
NM_030665.4
p.G93_R94del1
c.278_280delGGA
1 paper
NM_030665.4
p.G93_R94delFs
c.279_280delGA
11 papers
NM_030665.4
p.G90A
c.269G>C
3 papers
NM_030665.4
p.Q88*
c.262C>T
4 papers
NM_030665.4
p.L85fs
c.253_254fs
1 paper
NM_030665.4
p.G101fs
c.301_302fs
1 paper
NM_030665.4
p.V102I
c.304G>A
1 paper
NM_030665.4
p.G81_S82insFs
c.243_244insC
3 papers
NM_030665.4
p.L85_L91delFs
c.253_271del19
1 paper
NM_030665.4
p.S105_P109delFs
c.313_326del14
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