Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.S1772fs

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.S1772fs
c.5314_5315fs
Surrounding Variants
1 paper
NM_030665.4
p.S1772delFs
c.5316delT
1 paper
NM_030665.4
p.R1774W
c.5320C>T
1 paper
NM_030665.4
p.Q1766delFs
c.5297_5298delAG
1 paper
NM_030665.4
p.Q1766fs
c.5296_5297fs
3 papers
NM_030665.4
p.R1778R
c.5334G>A
1 paper
NM_030665.4
p.P1763L
c.5288C>T
4 papers
NM_030665.4
p.R1756fs
c.5266_5267fs
1 paper
NM_030665.4
p.R1789delFs
c.5365delC
1 paper
NM_030665.4
p.R1789W
c.5365C>T
1 paper
NM_030665.4
p.E1790K
c.5368G>A
14 papers
NM_030665.4
p.P1755delFs
c.5265delC
1 paper
NM_030665.4
p.K1753fs
c.5257_5258fs
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