Transcript #00016489 (NM_006502.2, POLH gene)

Transcript name polymerase (DNA directed), eta
Gene name POLH (polymerase (DNA directed), eta)
Chromosome 6
Transcript - NCBI ID NM_006502.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006493.1
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

93 entries on 1 page. Showing entries 1 - 93.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-3880C>T r.(?) p.(=)
+/? 1i c.-5+1G>C r.spl p.?
+/? 1i c.-5+1G>C r.spl p.?
+/. - c.-4-1G>A r.spl? p.?
+/. - c.25G>T r.(?) p.(Val9Phe)
+/? 2 c.108_110del r.(?) p.(Val37del)
?/. - c.126G>C r.(?) p.(Trp42Cys)
+/. - c.149dup r.(?) p.(Ser51Glufs*3)
+/. - c.207del r.(?) p.(Lys70Serfs*30)
+/. - c.207del r.(?) p.(Lys70Serfs*30)
+/. - c.225_227del r.(?) p.(Leu77del)
+/. - c.225_227del r.(?) p.(Leu77del)
+/. - c.272+1G>C r.spl p.?
?/. - c.272+4A>G r.spl? p.?
+/? 4 c.278G>C r.(?) p.(Arg93Pro)
?/. - c.296T>C r.(?) p.(Val99Ala)
?/. - c.313C>T r.(?) p.(Arg105Cys)
+?/. - c.332G>A r.(?) p.(Arg111His)
+/. - c.332G>A r.(?) p.(Arg111His)
+/. - c.332G>A r.(?) p.(Arg111His)
+/. - c.364A>C r.(?) p.(Thr122Pro)
?/. - c.413C>T r.(?) p.(Ser138Leu)
+/? 4 c.437dup r.(?) p.(Tyr146*)
+/. - c.437dup r.(?) p.(Tyr146*)
-/. - c.447G>T r.(?) p.(Gly149=)
+/. - c.490G>T r.(?) p.(Glu164*)
+/. - c.490+3A>G r.spl p.?
+/. - c.490+3A>G r.spl p.?
-?/. - c.491-15C>T r.(=) p.(=)
-?/. - c.582A>T r.(?) p.(Ala194=)
-/. - c.626G>T r.(?) p.(Gly209Val)
-/. - c.626G>T r.(?) p.(Gly209Val)
-/. - c.626G>T r.(?) p.(Gly209Val)
-?/. - c.626G>T r.(?) p.(Gly209Val)
+/? 5i_6i c.661-483_764+159del r.? p.(Val221Profs*2)
-?/. - c.661-10A>C r.(=) p.(=)
+/? 5i_7i c.661-?_884+?del r.(?) p.(Lys224Ilefs*8)
-?/. - c.738C>T r.(?) p.(Leu246=)
+/. - c.738del r.(?) p.(Phe247Serfs*16)
+/. - c.738del r.(?) p.(Phe247Serfs*16)
?/. - c.757C>T r.(?) p.(Arg253Cys)
+/. 6i c.764+1G>A r.spl? p.?
+/. 6i c.764+1G>A r.spl? p.?
+/. 6i c.764+1G>A r.spl? p.?
+/. - c.790G>C r.(?) p.(Ala264Pro)
+/? 7 c.797T>A r.(?) p.(Val266Asp)
-?/. - c.815T>C r.(?) p.(Ile272Thr)
-?/. - c.815T>C r.(?) p.(Ile272Thr)
+/. - c.890G>A r.(?) p.(Trp297Ter)
+/. - c.890G>A r.(?) p.(Trp297Ter)
?/. - c.896A>G r.(?) p.(Tyr299Cys)
+/? 8 c.897T>G r.(?) p.(Tyr299*)
+/? 8 c.907C>T r.(?) p.(Arg303*)
+/. 8 c.907C>T r.(?) p.(Arg303*)
+/. 8 c.907C>T r.(?) p.(Arg303*)
+/. 8 c.907C>T r.(?) p.(Arg303*)
+/. - c.1066C>T r.(?) p.(Arg356*)
+/. - c.1066C>T r.(?) p.(Arg356*)
?/. - c.1067G>A r.(?) p.(Arg356Gln)
?/. - c.1067G>A r.(?) p.(Arg356Gln)
+/? 9i_10i c.1075-2162_1244+1432del r.(?) p.(Asn359Valfs*32)
+/? 9i_10i c.1075-?_1244+?del r.(del) p.(Asn359Valfs*32)
?/. - c.1111C>T r.(?) p.(Arg371Cys)
?/. - c.1111C>T r.(?) p.(Arg371Cys)
+/. - c.1117C>T r.(?) p.(Gln373*)
+/. - c.1222_1225del r.(?) p.(Thr408Leufs*36)
+/. - c.1222_1225del r.(?) p.(Thr408Leufs*36)
+/. - c.1222_1225del r.(?) p.(Thr408Leufs*36)
+/. - c.1222_1225del r.(?) p.(Thr408Leufs*36)
-?/. - c.1253_1255del r.(?) p.(Pro418del)
?/. - c.1253_1255del r.(?) p.(Pro418del)
?/. - c.1273T>G r.(?) p.(Cys425Gly)
-/. - c.1434G>A r.(?) p.(Thr478=)
-?/. - c.1568G>C r.(?) p.(Ser523Thr)
?/. - c.1603A>C r.(?) p.(Lys535Gln)
-?/. - c.1603A>G r.(?) p.(Lys535Glu)
+/. - c.1603A>G r.(?) p.(Lys535Glu)
-?/. - c.1750C>T r.(?) p.(Leu584=)
-/. - c.1783A>G r.(?) p.(Met595Val)
-?/. - c.1783A>G r.(?) p.(Met595Val)
-/. - c.1783A>G r.(?) p.(Met595Val)
-?/. - c.1783A>G r.(?) p.(Met595Val)
-?/. - c.1815C>T r.(?) p.(His605=)
-?/. - c.1862C>T r.(?) p.(Thr621Ile)
-?/. - c.1965T>C r.(?) p.(Phe655=)
?/. - c.2024C>A r.(?) p.(Ser675Tyr)
-?/. - c.2024C>A r.(?) p.(Ser675Tyr)
?/? 11 c.2074A>G r.(?) p.(Thr692Ala)
+/? 11 c.2141A>G r.(?) p.(*714Trpext*8)
-?/. - c.*7067A>G r.(=) p.(=)
?/. - c.*7104C>T r.(=) p.(=)
?/. - c.*8227del r.(?) p.(=)
?/. - c.*9375C>T r.(=) p.(=)
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