Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q281Q

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.Q281Q
c.843G>A
Surrounding Variants
3 papers
NM_030665.4
p.Q280Q
c.840G>A
1 paper
NM_030665.4
p.Q280H
c.840G>C
1 paper
NM_030665.4
p.Q280H
c.840G>T
7 papers
NM_030665.4
p.Q280delFs
c.840delG
3 papers
NM_030665.4
p.Q280_Q281delFs
c.840_843del4
1 paper
NM_030665.4
p.Q280_Q285delFs
c.840_855del16
1 paper
NM_030665.4
p.Q283fs
c.847_848fs
1 paper
NM_030665.4
p.Q283delFs
c.849delG
11 papers
NM_030665.4
p.Q280fs
c.838_839fs
2 papers
NM_030665.4
p.Q280fs
c.838_839fs
5 papers
NM_030665.4
p.Q279Q
c.837G>A
1 paper
NM_030665.4
p.Q279_Q280delFs
c.837_838delGC
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