Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.R1480G

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.R1480G
c.4438A>G
Surrounding Variants
2 papers
NM_030665.4
p.L1504L
c.4512G>T
1 paper
NM_030665.4
p.A1453P
c.4357G>C
1 paper
NM_030665.4
p.Q1509fs
c.4525_4526fs
1 paper
NM_030665.4
p.Q1509R
c.4526A>G
1 paper
NM_030665.4
p.P1511P
c.4533G>A
1 paper
NM_030665.4
p.S1448insFs
c.4342dupA
1 paper
NM_030665.4
p.E1512E
c.4536G>A
1 paper
NM_030665.4
p.R1447T
c.4340G>C
1 paper
NM_030665.4
p.Q1517R
c.4550A>G
1 paper
NM_030665.4
p.G1438A
c.4313G>C
1 paper
NM_030665.4
p.P1437P
c.4311T>C
3 papers
NM_030665.4
p.P1432L
c.4295C>T
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