Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.R994Q

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.R994Q
c.2981G>A
Surrounding Variants
1 paper
NM_030665.4
p.R994R
c.2982G>A
1 paper
NM_030665.4
p.G995S
c.2983G>A
1 paper
NM_030665.4
p.E990fs
c.2968_2969fs
1 paper
NM_030665.4
p.E990delFs
c.2969_2970delAG
3 papers
NM_030665.4
p.K989fs
c.2965_2966fs
1 paper
NM_030665.4
p.R1001delFs
c.3002delG
1 paper
NM_030665.4
p.R1001fs
c.3001_3002fs
2 papers
NM_030665.4
p.K989_E990delFs
c.2966_2969del4
1 paper
NM_030665.4
p.P985_E990insFs
c.2955_2970dup16
1 paper
NM_030665.4
p.A984V
c.2951C>T
1 paper
NM_030665.4
p.E983K
c.2947G>A
2 papers
NM_030665.4
p.D969D
c.2907C>T
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