Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.P398delFs

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
4 papers
NM_030665.4
p.P398delFs
c.1194delC
Surrounding Variants
1 paper
NM_030665.4
p.S399P
c.1195T>C
4 papers
NM_030665.4
p.S399fs
c.1195_1196fs
1 paper
NM_030665.4
p.D402Y
c.1204G>T
1 paper
NM_030665.4
p.P383L
c.1148C>T
1 paper
NM_030665.4
p.G412D
c.1235G>A
1 paper
NM_030665.4
p.A381A
c.1143C>T
4 papers
NM_030665.4
p.A381V
c.1142C>T
1 paper
NM_030665.4
p.D420delFs
c.1259_1260delAC
3 papers
NM_030665.4
p.Q374fs
c.1120_1121fs
9 papers
NM_030665.4
p.S373delFs
c.1119delC
1 paper
NM_030665.4
p.N425_S428ins1
c.1275_1283dup9
1 paper
NM_030665.4
p.L427P
c.1280T>C
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