Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.A832_D840del9

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.A832_D840del9
c.2494_2519del27
Surrounding Variants
6 papers
NM_030665.4
p.A832_A834del3
c.2494_2501del9
2 papers
NM_030665.4
p.A832_H843del12
c.2494_2528del36
1 paper
NM_030665.4
p.A832_W837del6
c.2494_2510del18
1 paper
NM_030665.4
p.V831_A832ins5
c.2491_2495ins15
1 paper
NM_030665.4
p.A834_D835insCAA
c.2500_2504ins9
2 papers
NM_030665.4
p.D835_W837del3
c.2503_2510del9
1 paper
NM_030665.4
p.R836_W837insACA
c.2506_2510ins9
1 paper
NM_030665.4
p.Q827*
c.2479C>T
1 paper
NM_030665.4
p.W837_L838del2
c.2509_2513del6
1 paper
NM_030665.4
p.L838_D840del3
c.2512_2519del9
1 paper
NM_030665.4
p.L825fs
c.2473_2474fs
1 paper
NM_030665.4
p.D840_L855del16
c.2518_2564del48
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