Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q279_Q280delFs

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.Q279_Q280delFs
c.837_838delGC
Surrounding Variants
1 paper
NM_030665.4
p.Q279fs
c.835_836fs
5 papers
NM_030665.4
p.Q279Q
c.837G>A
11 papers
NM_030665.4
p.Q280fs
c.838_839fs
2 papers
NM_030665.4
p.Q280fs
c.838_839fs
2 papers
NM_030665.4
p.Q278H
c.834G>C
2 papers
NM_030665.4
p.Q278_Q279ins1
c.834_835insCAA
2 papers
NM_030665.4
p.Q278H
c.834G>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
3 papers
NM_030665.4
p.Q280Q
c.840G>A
1 paper
NM_030665.4
p.Q280H
c.840G>C
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