Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.A617T

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.A617T
c.1849G>A
Surrounding Variants
1 paper
NM_030665.4
p.I618delFs
c.1854delC
1 paper
NM_030665.4
p.Q615*
c.1843C>T
1 paper
NM_030665.4
p.I611L
c.1831A>C
1 paper
NM_030665.4
p.A627D
c.1880C>A
1 paper
NM_030665.4
p.Q604*
c.1810C>T
2 papers
NM_030665.4
p.D635V
c.1904A>T
2 papers
NM_030665.4
p.R596W
c.1786C>T
1 paper
NM_030665.4
p.C594R
c.1780T>C
1 paper
NM_030665.4
p.S642L
c.1925C>T
1 paper
NM_030665.4
p.G577S
c.1729G>A
2 papers
NM_030665.4
p.A657V
c.1970C>T
10 papers
NM_030665.4
p.W658*
c.1973G>A
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