Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.E801_L806del6

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.E801_L806del6
c.2401_2417del18
Surrounding Variants
8 papers
NM_030665.4
p.G800fs
c.2398_2399fs
6 papers
NM_030665.4
p.P799insFs
c.2396dupC
1 paper
NM_030665.4
p.S805L
c.2414C>T
1 paper
NM_030665.4
p.G808R
c.2422G>A
1 paper
NM_030665.4
p.G808R
c.2422G>C
1 paper
NM_030665.4
p.K811_Q812del2
c.2431_2435del6
1 paper
NM_030665.4
p.K811Q
c.2431A>C
1 paper
NM_030665.4
p.A789delFs
c.2366delC
1 paper
NM_030665.4
p.Q812*
c.2434C>T
1 paper
NM_030665.4
p.D783N
c.2347G>A
1 paper
NM_030665.4
p.E821K
c.2461G>A
1 paper
NM_030665.4
p.A822E
c.2465C>A
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