Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.R1561*

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.R1561*
c.4681C>T
Surrounding Variants
3 papers
NM_030665.4
p.R1560*
c.4678C>T
19 papers
NM_030665.4
p.Q1562R
c.4685A>G
1 paper
NM_030665.4
p.Q1562L
c.4685A>T
1 paper
NM_030665.4
p.R1559fs
c.4675_4676fs
2 papers
NM_030665.4
p.K1558insFs
c.4673dupA
3 papers
NM_030665.4
p.V1565M
c.4693G>A
1 paper
NM_030665.4
p.G1555G
c.4665G>T
1 paper
NM_030665.4
p.L1568R
c.4703T>G
1 paper
NM_030665.4
p.S1551L
c.4652C>T
9 papers
NM_030665.4
p.S1550delFs
c.4649delC
3 papers
NM_030665.4
p.S1550fs
c.4648_4649fs
1 paper
NM_030665.4
p.R1539C
c.4615C>T
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