Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.P483delFs

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
15 papers
NM_030665.4
p.P483delFs
c.1449delC
Surrounding Variants
1 paper
NM_030665.4
p.E484K
c.1450G>A
4 papers
NM_030665.4
p.E484fs
c.1450_1451fs
1 paper
NM_030665.4
p.S489*
c.1466C>A
1 paper
NM_030665.4
p.S489*
c.1466C>G
1 paper
NM_030665.4
p.R471delFs
c.1412delG
1 paper
NM_030665.4
p.P500L
c.1499C>T
2 papers
NM_030665.4
p.P500P
c.1500G>A
1 paper
NM_030665.4
p.Q461*
c.1381C>T
1 paper
NM_030665.4
p.T508fs
c.1522_1523fs
1 paper
NM_030665.4
p.K456_A457ins4
c.1366_1370ins12
2 papers
NM_030665.4
p.Q513R
c.1538A>G
1 paper
NM_030665.4
p.E514_Y517del4
c.1540_1550del12
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