Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.P550P

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.P550P
c.1650C>T
Surrounding Variants
1 paper
NM_030665.4
p.T555I
c.1664C>T
1 paper
NM_030665.4
p.M564I
c.1692G>A
1 paper
NM_030665.4
p.M564I
c.1692G>C
1 paper
NM_030665.4
p.M564I
c.1692G>T
1 paper
NM_030665.4
p.R536H
c.1607G>A
1 paper
NM_030665.4
p.N533Y
c.1597A>T
2 papers
NM_030665.4
p.L575P
c.1724T>C
1 paper
NM_030665.4
p.G577S
c.1729G>A
1 paper
NM_030665.4
p.S519G
c.1555A>G
4 papers
NM_030665.4
p.L518_S519insG
c.1552_1556ins3
1 paper
NM_030665.4
p.E514_Y517del4
c.1540_1550del12
2 papers
NM_030665.4
p.Q513R
c.1538A>G
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