Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.E1512E

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.E1512E
c.4536G>A
Surrounding Variants
1 paper
NM_030665.4
p.P1511P
c.4533G>A
1 paper
NM_030665.4
p.Q1509R
c.4526A>G
1 paper
NM_030665.4
p.Q1509fs
c.4525_4526fs
1 paper
NM_030665.4
p.Q1517R
c.4550A>G
2 papers
NM_030665.4
p.L1504L
c.4512G>T
1 paper
NM_030665.4
p.R1537Q
c.4610G>A
1 paper
NM_030665.4
p.R1539C
c.4615C>T
1 paper
NM_030665.4
p.R1480G
c.4438A>G
9 papers
NM_030665.4
p.S1550delFs
c.4649delC
3 papers
NM_030665.4
p.S1550fs
c.4648_4649fs
1 paper
NM_030665.4
p.S1551L
c.4652C>T
1 paper
NM_030665.4
p.G1555G
c.4665G>T
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