Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.K1347E

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
2 papers
NM_030665.4
p.K1347E
c.4039A>G
Surrounding Variants
1 paper
NM_030665.4
p.G1354S
c.4060G>A
1 paper
NM_030665.4
p.R1325Q
c.3974G>A
1 paper
NM_030665.4
p.G1312E
c.3935G>A
1 paper
NM_030665.4
p.L1382V
c.4144C>G
1 paper
NM_030665.4
p.F1310Fs
c.3929_3930delinsGFs
2 papers
NM_030665.4
p.R1307W
c.3919C>T
1 paper
NM_030665.4
p.T1387I
c.4160C>T
1 paper
NM_030665.4
p.G1388R
c.4162G>A
1 paper
NM_030665.4
p.G1388R
c.4162G>C
6 papers
NM_030665.4
p.Q1389R
c.4166A>G
2 papers
NM_030665.4
p.L1302I
c.3904C>A
1 paper
NM_030665.4
p.C1301*
c.3903C>A
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