Transcript #00024274 (NM_003560.2, PLA2G6 gene)

Transcript name transcript variant 1
Gene name PLA2G6 (phospholipase A2, group VI (cytosolic, calcium-independent))
Chromosome 22
Transcript - NCBI ID NM_003560.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003551.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

234 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-20C>A r.(?) p.(=)
+/+ 2 c.1A>G r.(?) p.0?
-/. - c.87G>A r.(?) p.(Val29=)
-/. - c.87G>A r.(?) p.(Val29=)
-/. - c.87G>A r.(?) p.(Val29=)
?/. - c.91G>A r.(?) p.(Asp31Asn)
+/+ 2 c.109C>T r.(?) p.(R37*)
+/. 2 c.109C>T r.(?) p.(Arg37*)
+/+ 2 c.116G>T r.(?) p.(R39Q)
?/. - c.152C>G r.(?) p.(Pro51Arg)
?/. - c.157C>T r.(?) p.(Arg53Cys)
-?/. - c.172G>A r.(?) p.(Val58Ile)
-/. - c.172G>A r.(?) p.(Val58Ile)
-?/. - c.187A>G r.(?) p.(Arg63Gly)
+/+ 2 c.208C>T r.(?) p.(R70*)
-?/. - c.209+16C>T r.(=) p.(=)
-/. - c.209+16C>T r.(=) p.(=)
-/. - c.209+16C>T r.(=) p.(=)
-/. - c.209+5777G>T r.(=) p.(=)
-/. - c.210-1793A>G r.(=) p.(=)
+/+ 3 c.238G>A r.(?) p.(A80T)
?/. - c.238G>A r.(?) p.(Ala80Thr)
?/. - c.238G>T r.(?) p.(Ala80Ser)
+/+ 3 c.317del r.(?) p.(Val106AlafsTer5)
+/+ 3 c.319del r.(?) p.(Leu107CysfsTer4)
-?/. - c.325C>G r.(?) p.(His109Asp)
?/. - c.325C>G r.(?) p.(His109Asp)
?/. - c.370C>T r.(?) p.(His124Tyr)
?/. - c.395G>A r.(?) p.(Arg132His)
+/+ 3 c.404T>C r.(?) p.(F135S)
?/. - c.416G>A r.(?) p.(Arg139His)
+/+ 3i_7i c.(425+1_426-1)_(1077+1_1078-1)dup r.(426_1077dup) p.(Lys360Leufs*22)
+/+ 4 c.439G>A r.(?) p.(A147T)
+/+ 4 c.469C>T r.(?) p.(H157Y)
+/+ 4 c.470A>G r.(?) p.(H157R)
+/+ 4 c.470A>G r.(?) p.(H157R)
-/. - c.495G>C r.(?) p.(Gly165=)
-/. - c.495G>C r.(?) p.(Gly165=)
-?/. - c.564C>T r.(?) p.(Thr188=)
+/+ 4i_6i c.(609+1_610-1)_(894+1_895-1)del r.(del) p.(L204_E298del98)
+/. - c.643C>T r.(?) p.(Gln215*)
+/+ 5 c.665C>T r.(?) p.(T222I)
-?/. - c.666C>G r.(?) p.(Thr222=)
+/+ 5 c.668C>A r.(?) p.(P223Q)
-?/. - c.710G>A r.(?) p.(Arg237His)
+/+ 5 c.719C>T r.(?) p.(L240P)
+/+ 5 c.751_759del r.(?) p.(Pro251_Gly253del)
+/+ 5 c.755del r.(?) p.(Asn252ThrfsTer9)
+/+ 6 c.848A>G r.(?) p.(D283G)
-?/. - c.888C>T r.(?) p.(Asn296=)
?/? 6 c.894+46del r.(=) p.(=)
?/. - c.901C>T r.(?) p.(Arg301Cys)
?/. - c.901C>T r.(?) p.(Arg301Cys)
+/+ 7 c.905T>G r.(?) p.(M302R)
?/. - c.906G>A r.(?) p.(Met302Ile)
?/. - c.916C>T r.(?) p.(Arg306Trp)
-?/. - c.927C>T r.(?) p.(Asn309=)
+/+ 7 c.929T>A r.(?) p.(V310E)
?/. - c.956C>T r.(?) p.(Thr319Met)
-/. - c.957G>A r.(?) p.(Thr319=)
-/. - c.957G>A r.(?) p.(Thr319=)
-?/. - c.966C>T r.(?) p.(His322=)
-?/. - c.972G>A r.(?) p.(Ala324=)
-/. - c.972G>A r.(?) p.(Ala324=)
-?/. - c.972G>A r.(?) p.(Ala324=)
?/. - c.982A>C r.(?) p.(Asn328His)
?/. - c.986G>A r.(?) p.(Arg329His)
-?/. - c.990C>T r.(?) p.(Phe330=)
-?/. - c.990C>T r.(?) p.(Phe330=)
?/. - c.991G>A r.(?) p.(Asp331Asn)
+/. - c.991G>T r.(?) p.(Asp331Tyr)
?/. - c.995G>C r.(?) p.(Cys332Ser)
+/+ 7 c.1018G>A r.(?) p.(G340R)
+/+ 7 c.1021G>A r.(?) p.(A341T)
-/. - c.1027G>A r.(?) p.(Ala343Thr)
-?/. - c.1027G>A r.(?) p.(Ala343Thr)
-/. - c.1027G>A r.(?) p.(Ala343Thr)
-?/. - c.1027G>A r.(?) p.(Ala343Thr)
+/+ 7 c.1039G>A r.(?) p.(G347R)
+/+ 7 c.1058C>T r.(?) p.(P353L)
-?/. - c.1059G>A r.(?) p.(Pro353=)
+/+ 7 c.1061T>C r.(?) p.(L354P)
+/+ 7 c.1061T>C r.(?) p.(L354P)
+/. - c.1077G>A r.1074_1077del p.Met358Ilefs*7
-?/. - c.1078-15C>G r.(=) p.(=)
+?/. - c.1078-1G>A r.spl? p.?
-/. - c.1086C>T r.(?) p.(Asn362=)
-/. - c.1086C>T r.(?) p.(Asn362=)
-?/. - c.1087G>A r.(?) p.(Val363Met)
+/+ 8 c.1103C>A r.(?) p.(A368D)
?/. - c.1106T>G r.(?) p.(Leu369Arg)
+/+ 8 c.1111G>A r.(?) p.(V371M)
+/+ 8 c.1117A>G r.(?) p.(G373R)
+?/. - c.1125del r.(?) p.(Val376Trpfs*14)
-?/. - c.1186+8C>G r.(=) p.(=)
?/? 8i c.1187-93_1187-92del r.(?) p.(=)
-?/. - c.1187-8A>G r.(=) p.(=)
-?/. - c.1241G>T r.(?) p.(Cys414Phe)
-?/. - c.1241G>T r.(?) p.(Cys414Phe)
-?/. - c.1266C>T r.(?) p.(Pro422=)
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »