Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.S357fs

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.S357fs
c.1069_1070fs
Surrounding Variants
1 paper
NM_030665.4
p.S357insFs
c.1069_1070insC
1 paper
NM_030665.4
p.R352C
c.1054C>T
1 paper
NM_030665.4
p.P365Q
c.1094C>A
1 paper
NM_030665.4
p.S342_S345delFs
c.1026_1033del8
9 papers
NM_030665.4
p.S373delFs
c.1119delC
3 papers
NM_030665.4
p.Q374fs
c.1120_1121fs
4 papers
NM_030665.4
p.A381V
c.1142C>T
1 paper
NM_030665.4
p.A381A
c.1143C>T
1 paper
NM_030665.4
p.P383L
c.1148C>T
1 paper
NM_030665.4
p.V328I
c.982G>A
1 paper
NM_030665.4
p.A326T
c.976G>A
1 paper
NM_030665.4
p.P324L
c.971C>T
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