Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.A1048fs

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.A1048fs
c.3142_3143fs
Surrounding Variants
2 papers
NM_030665.4
p.S1049L
c.3146C>T
1 paper
NM_030665.4
p.A1048delFs
c.3142delG
1 paper
NM_030665.4
p.P1044S
c.3130C>T
1 paper
NM_030665.4
p.A1043S
c.3127G>T
1 paper
NM_030665.4
p.L1060fs
c.3178_3179fs
1 paper
NM_030665.4
p.Q1035insFs
c.3104_3105insC
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
3 papers
NM_030665.4
p.T1061T
c.3183G>A
1 paper
NM_030665.4
p.P1033L
c.3098C>T
1 paper
NM_030665.4
p.P1033S
c.3097C>T
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