Transcript #00023956 (NM_022081.5, HPS4 gene)

Transcript name transcript variant 1
Gene name HPS4 (Hermansky-Pudlak syndrome 4)
Chromosome 22
Transcript - NCBI ID NM_022081.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_071364.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 3 c.57del r.(?) p.(Leu20PhefsTer7)
-/. - c.123T>C r.(?) p.(Tyr41=)
-?/. - c.250A>G r.(?) p.(Ile84Val)
-/. - c.250A>G r.(?) p.(Ile84Val)
?/. - c.266A>T r.(?) p.(Asp89Val)
+/. 6 c.412G>T r.(?) p.(Gln138*)
?/. - c.445A>G r.(?) p.(Asn149Asp)
+/. 6 c.461A>G r.(?) p.(His154Arg)
?/. - c.532C>T r.(?) p.(Arg178Cys)
+/. 7 c.541C>T r.(?) p.(Gln181*)
+/. 7 c.541C>T r.(?) p.(Gln181*)
?/. - c.605G>T r.(?) p.(Ser202Ile)
+/. 8 c.649C>T r.(?) p.(Arg217*)
+/. - c.649C>T r.(?) p.(Arg217Ter)
?/. 8 c.664G>T r.(?) p.(Glu222*)
-/. - c.686A>G r.(?) p.(Glu229Gly)
+/. 9i c.706+151C>T r.(?) p.(=)
-?/. - c.710C>T r.(?) p.(Ala237Val)
-/. - c.710C>T r.(?) p.(Ala237Val)
-/. - c.741T>A r.(?) p.(Pro247=)
-?/. - c.751A>T r.(?) p.(Thr251Ser)
+/. - c.839C>G r.(?) p.(Ser280Ter)
-?/. - c.860G>C r.(?) p.(Gly287Ala)
+/. 11 c.(949_972dup) r.(?) p.(Ala316_Glu323dup)
-?/. - c.1011G>A r.(?) p.(Arg337=)
-/. - c.1029C>T r.(?) p.(Asn343=)
-?/. - c.1177C>T r.(?) p.(Pro393Ser)
-/. - c.1327C>G r.(?) p.(Leu443Val)
-/. - c.1356A>C r.(?) p.(Gln452His)
?/. - c.1396C>T r.(?) p.(Arg466Cys)
-?/. - c.1396C>T r.(?) p.(Arg466Cys)
?/. - c.1397G>A r.(?) p.(Arg466His)
?/. - c.1516C>G r.(?) p.(Leu506Val)
?/. - c.1527T>G r.(?) p.(Ser509Arg)
-?/. - c.1543T>C r.(?) p.(Cys515Arg)
-?/. - c.1645A>G r.(?) p.(Lys549Glu)
-/. - c.1654G>A r.(?) p.(Val552Met)
-/. - c.1816C>T r.(?) p.(His606Tyr)
?/. - c.1871C>T r.(?) p.(Pro624Leu)
-/. - c.1875G>T r.(?) p.(Gln625His)
-?/. - c.1883G>A r.(?) p.(Arg628His)
-/. - c.1883G>A r.(?) p.(Arg628His)
-?/. - c.1888C>T r.(?) p.(Leu630Phe)
+/. 13 c.1891C>T r.(?) p.(Gln631*)
+/. 13 c.1891C>T r.(?) p.(Gln631*)
?/. - c.1954A>G r.(?) p.(Arg652Gly)
-/. - c.1955+18G>A r.(=) p.(=)
?/. - c.1959T>C r.(?) p.(Asn653=)
-?/. - c.1959T>C r.(?) p.(Asn653=)
-?/. - c.1966A>T r.(?) p.(Thr656Ser)
-?/. - c.1993A>T r.(?) p.(Ile665Phe)
?/. - c.2004A>G r.(?) p.(Thr668=)
+/. 14 c.2054del r.(?) p.(Pro685LeufsTer17)
?/. 14 c.2054del r.(?) p.(Pro685LeufsTer17)
-?/. - c.2079C>T r.(?) p.(Ser693=)
+/. 14 c.2089_2093dup r.(?) p.(fs*)
+/. 14 c.2089_2093dup r.(?) p.(fs*)
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