Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.K456_A457ins4

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.K456_A457ins4
c.1366_1370ins12
Surrounding Variants
1 paper
NM_030665.4
p.Q461*
c.1381C>T
1 paper
NM_030665.4
p.N447S
c.1340A>G
1 paper
NM_030665.4
p.R471delFs
c.1412delG
1 paper
NM_030665.4
p.A437G
c.1310C>G
2 papers
NM_030665.4
p.T436M
c.1307C>T
1 paper
NM_030665.4
p.S434S
c.1302C>T
7 papers
NM_030665.4
p.Q433*
c.1297C>T
1 paper
NM_030665.4
p.L432insFs
c.1296dupG
15 papers
NM_030665.4
p.P483delFs
c.1449delC
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.L427P
c.1280T>C
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