Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q1035delFs

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
15 papers
NM_030665.4
p.Q1035delFs
c.3103delC
Surrounding Variants
19 papers
NM_030665.4
p.Q1035insFs
c.3103_3104insC
1 paper
NM_030665.4
p.Q1035insFs
c.3103_3104insCC
1 paper
NM_030665.4
p.P1033S
c.3097C>T
1 paper
NM_030665.4
p.P1033L
c.3098C>T
1 paper
NM_030665.4
p.G1032fs
c.3094_3095fs
2 papers
NM_030665.4
p.Q1035fs
c.3103_3104fs
1 paper
NM_030665.4
p.Q1035*
c.3103C>T
5 papers
NM_030665.4
p.Q1035fs
c.3103_3104fs
1 paper
NM_030665.4
p.Q1035insFs
c.3104_3105insC
1 paper
NM_030665.4
p.L1026_P1033del8
c.3076_3098del24
1 paper
NM_030665.4
p.K1022R
c.3065A>G
1 paper
NM_030665.4
p.A1043S
c.3127G>T
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