Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.A657V

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.A657V
c.1970C>T
Surrounding Variants
10 papers
NM_030665.4
p.W658*
c.1973G>A
9 papers
NM_030665.4
p.W658*
c.1974G>A
1 paper
NM_030665.4
p.P659P
c.1977C>G
4 papers
NM_030665.4
p.P664P
c.1992G>A
1 paper
NM_030665.4
p.L667P
c.2000T>C
1 paper
NM_030665.4
p.S642L
c.1925C>T
2 papers
NM_030665.4
p.D635V
c.1904A>T
1 paper
NM_030665.4
p.D681E
c.2043C>A
1 paper
NM_030665.4
p.D681E
c.2043C>G
1 paper
NM_030665.4
p.A627D
c.1880C>A
1 paper
NM_030665.4
p.P690S
c.2068C>T
1 paper
NM_030665.4
p.S691S
c.2073C>T
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