Transcript #00017742 (NM_001160036.1, RHOBTB2 gene)

Transcript name transcript variant 1
Gene name RHOBTB2 (Rho-related BTB domain containing 2)
Chromosome 8
Transcript - NCBI ID NM_001160036.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001153508.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

71 entries on 1 page. Showing entries 1 - 71.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.5A>C r.(?) p.(Gln2Pro)
?/. - c.56+1243G>A r.(=) p.(=)
+?/. - c.258+4A>C r.spl? p.?
-?/. - c.258+4A>C r.spl? p.?
+?/. - c.314G>A r.(?) p.(Trp105*)
+?/. - c.340G>C r.(?) p.(Asp114His)
+?/. - c.346C>T r.(?) p.(Arg116Cys)
+?/. - c.460C>T r.(?) p.(Arg154*)
+?/. - c.461G>A r.(?) p.(Arg154Gln)
+?/. - c.461G>T r.(?) p.(Arg154Leu)
+?/. - c.535C>T r.(?) p.(Arg179*)
?/. - c.548G>T r.spl? p.(Arg183Met)
?/. - c.548+5G>A r.spl? p.?
?/. - c.616C>G r.(?) p.(Pro206Ala)
?/. - c.649G>A r.(?) p.(Gly217Ser)
?/. - c.773C>G r.(?) p.(Pro258Arg)
?/. - c.785C>T r.(?) p.(Pro262Leu)
-?/. - c.800T>C r.(?) p.(Val267Ala)
-?/. - c.800T>C r.(?) p.(Val267Ala)
-?/. - c.896G>A r.(?) p.(Arg299His)
?/. - c.1028G>T r.(?) p.(Gly343Val)
?/. - c.1154G>A r.(?) p.(Arg385His)
?/. - c.1345C>T r.(?) p.(Arg449Trp)
+?/. - c.1412C>T r.(?) p.(Ala471Val)
+/. - c.1421C>G r.(?) p.(Ala474Gly)
+/. - c.1421C>G r.(?) p.(Ala474Gly)
+?/. 7 c.1448G>A r.(?) p.(Arg483His)
?/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+/. - c.1448G>A r.(?) p.(Arg483His)
+?/. 7 c.1519C>T r.(?) p.(Arg507Cys)
+/. - c.1519C>T r.(?) p.(Arg507Cys)
+?/. - c.1528A>G r.(?) p.(Asn510Asp)
+/. - c.1528A>G r.(?) p.(Asn510Asp)
+?/. - c.1531C>G r.(?) p.(Arg511Gly)
+?/. - c.1531C>T r.(?) p.(Arg511Trp)
+?/. - c.1531C>T r.(?) p.(Arg511Trp)
+/. - c.1531C>T r.(?) p.(Arg511Trp)
+/. - c.1531C>T r.(?) p.(Arg511Trp)
+/. - c.1532G>A r.(?) p.(Arg511Gln)
+/. - c.1532G>A r.(?) p.(Arg511Gln)
+/. - c.1532G>A r.(?) p.(Arg511Gln)
+/. - c.1532G>A r.(?) p.(Arg511Gln)
+/. - c.1532G>A r.(?) p.(Arg511Gln)
+?/. 7 c.1532G>A r.(?) p.(Arg511Gln)
?/. - c.1568-1G>A r.spl? p.?
?/. - c.1595C>T r.(?) p.(Thr532Ile)
+?/. - c.1626del r.(?) p.(Ser543Alafs*52)
-?/. - c.1751T>C r.(?) p.(Met584Thr)
?/. - c.1819C>T r.(?) p.(His607Tyr)
-?/. - c.1875G>A r.(?) p.(=)
?/. - c.1891G>A r.(?) p.(Asp631Asn)
?/. - c.1979A>G r.(?) p.(Asn660Ser)
-?/. - c.1997G>A r.(?) p.(Arg666His)
+?/. - c.1998dup r.(?) p.(Lys667Glnfs*42)
+?/. - c.2008C>T r.(?) p.(Arg670*)
+?/. - c.2032+1G>C r.spl p.?
?/. - c.2100C>G r.(?) p.(Tyr700*)
?/. - c.2105G>A r.(?) p.(Arg702Gln)
?/. - c.2110C>T r.(?) p.(Arg704Trp)
?/. - c.2162G>A r.(?) p.(Arg721Gln)
./. - c.*2669A>T r.(=) p.(=)
?/. - c.*9755G>T r.(=) p.(=)
-/. - c.*11038A>G r.(=) p.(=)
-/. - c.*51331G>A r.(=) p.(=)
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