Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.G715R

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.G715R
c.2143G>C
Surrounding Variants
1 paper
NM_030665.4
p.G715R
c.2143G>A
1 paper
NM_030665.4
p.A718P
c.2152G>C
1 paper
NM_030665.4
p.S707C
c.2120C>G
1 paper
NM_030665.4
p.T723A
c.2167A>G
1 paper
NM_030665.4
p.A695A
c.2085T>C
1 paper
NM_030665.4
p.A735D
c.2204C>A
1 paper
NM_030665.4
p.A693V
c.2078C>T
1 paper
NM_030665.4
p.S691S
c.2073C>T
1 paper
NM_030665.4
p.P690S
c.2068C>T
1 paper
NM_030665.4
p.N742S
c.2225A>G
1 paper
NM_030665.4
p.D681E
c.2043C>A
1 paper
NM_030665.4
p.D681E
c.2043C>G
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