Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.W121*

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.W121*
c.363G>A
Surrounding Variants
1 paper
NM_030665.4
p.W121*
c.362G>A
1 paper
NM_030665.4
p.Q125*
c.373C>T
1 paper
NM_030665.4
p.Q130*
c.388C>T
1 paper
NM_030665.4
p.R111fs
c.331_332fs
1 paper
NM_030665.4
p.P135S
c.403C>T
1 paper
NM_030665.4
p.A136V
c.407C>T
1 paper
NM_030665.4
p.S105_P109delFs
c.313_326del14
1 paper
NM_030665.4
p.Y141F
c.422A>T
1 paper
NM_030665.4
p.V102I
c.304G>A
1 paper
NM_030665.4
p.G101fs
c.301_302fs
1 paper
NM_030665.4
p.L145fs
c.433_434fs
1 paper
NM_030665.4
p.K148Q
c.442A>C
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