Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.R1160Q

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.R1160Q
c.3479G>A
Surrounding Variants
1 paper
NM_030665.4
p.S1158C
c.3473C>G
1 paper
NM_030665.4
p.R1167Q
c.3500G>A
4 papers
NM_030665.4
p.R1147Q
c.3440G>A
1 paper
NM_030665.4
p.K1176E
c.3526A>G
2 papers
NM_030665.4
p.Q1141*
c.3421C>T
1 paper
NM_030665.4
p.S1190C
c.3569C>G
6 papers
NM_030665.4
p.E1130fs
c.3388_3389fs
2 papers
NM_030665.4
p.S1192fs
c.3574_3575fs
3 papers
NM_030665.4
p.S1192delFs
c.3575delG
1 paper
NM_030665.4
p.S1192fs
c.3574_3575fs
3 papers
NM_030665.4
p.K1129insFs
c.3386dupA
1 paper
NM_030665.4
p.P1123_M1124del2
c.3367_3371del6
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