Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.R1217Q

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
7 papers
NM_030665.4
p.R1217Q
c.3650G>A
Surrounding Variants
13 papers
NM_030665.4
p.S1212G
c.3634A>G
1 paper
NM_030665.4
p.A1230V
c.3689C>T
1 paper
NM_030665.4
p.R1204G
c.3610A>G
1 paper
NM_030665.4
p.P1231T
c.3691C>A
1 paper
NM_030665.4
p.P1233H
c.3698C>A
1 paper
NM_030665.4
p.T1234delFs
c.3702delC
1 paper
NM_030665.4
p.K1235fs
c.3703_3704fs
2 papers
NM_030665.4
p.R1198S
c.3594G>C
2 papers
NM_030665.4
p.R1198S
c.3594G>T
2 papers
NM_030665.4
p.S1192fs
c.3574_3575fs
3 papers
NM_030665.4
p.S1192delFs
c.3575delG
1 paper
NM_030665.4
p.S1192fs
c.3574_3575fs
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