Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.G1256A

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.G1256A
c.3767G>C
Surrounding Variants
1 paper
NM_030665.4
p.N1254delFs
c.3762delT
1 paper
NM_030665.4
p.K1259_E1260del2
c.3775_3779del6
2 papers
NM_030665.4
p.E1261del1
c.3781_3783delGAG
1 paper
NM_030665.4
p.N1250N
c.3750C>T
2 papers
NM_030665.4
p.E1264G
c.3791A>G
1 paper
NM_030665.4
p.E1264D
c.3792G>C
1 paper
NM_030665.4
p.E1264D
c.3792G>T
13 papers
NM_030665.4
p.P1267delFs
c.3801delC
4 papers
NM_030665.4
p.T1268fs
c.3802_3803fs
1 paper
NM_030665.4
p.R1244_S1245del1
c.3731_3733delGCA
1 paper
NM_030665.4
p.S1247_N1250del0
c.3740_3748del9
1 paper
NM_030665.4
p.S1274C
c.3821C>G
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