Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.M1849V

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.M1849V
c.5545A>G
Surrounding Variants
1 paper
NM_030665.4
p.M1849R
c.5546T>G
4 papers
NM_030665.4
p.Q1846*
c.5536C>T
1 paper
NM_030665.4
p.G1844R
c.5530G>A
1 paper
NM_030665.4
p.G1844R
c.5530G>C
1 paper
NM_030665.4
p.P1812L
c.5435C>T
1 paper
NM_030665.4
p.A1811fs
c.5431_5432fs
17 papers
NM_030665.4
p.S1808N
c.5423G>A
2 papers
NM_030665.4
p.S1808fs
c.5422_5423fs
1 paper
NM_030665.4
p.E1790K
c.5368G>A
1 paper
NM_030665.4
p.R1789W
c.5365C>T
1 paper
NM_030665.4
p.R1789delFs
c.5365delC
3 papers
NM_030665.4
p.R1778R
c.5334G>A
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