Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.D753delFs

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.D753delFs
c.2257delG
Surrounding Variants
1 paper
NM_030665.4
p.D753fs
c.2257_2258fs
1 paper
NM_030665.4
p.A754delFs
c.2260delG
1 paper
NM_030665.4
p.P756L
c.2267C>T
1 paper
NM_030665.4
p.P756P
c.2268C>T
7 papers
NM_030665.4
p.W758*
c.2273G>A
6 papers
NM_030665.4
p.W758*
c.2274G>A
1 paper
NM_030665.4
p.N742S
c.2225A>G
1 paper
NM_030665.4
p.A735D
c.2204C>A
3 papers
NM_030665.4
p.G778_I779delFs
c.2332_2336del5
3 papers
NM_030665.4
p.G778fs
c.2332_2333fs
1 paper
NM_030665.4
p.T723A
c.2167A>G
1 paper
NM_030665.4
p.D783N
c.2347G>A
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