Transcript #00016303 (NM_016341.3, PLCE1 gene)

Transcript name transcript variant 1
Gene name PLCE1 (phospholipase C, epsilon 1)
Chromosome 10
Transcript - NCBI ID NM_016341.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_057425.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

88 entries on 1 page. Showing entries 1 - 88.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-135G>A r.(?) p.(=)
-/. - c.227C>T r.(?) p.(Ala76Val)
-/. - c.810T>C r.(?) p.(Cys270=)
-/. - c.810T>C r.(?) p.(Cys270=)
-/. - c.810T>C r.(?) p.(Cys270=)
-/. - c.960G>A r.(?) p.(Glu320=)
-/. - c.960G>A r.(?) p.(Glu320=)
-/. - c.960G>A r.(?) p.(Glu320=)
-/. - c.1207-43007T>C r.(=) p.(=)
?/. - c.1207-42809A>T r.(=) p.(=)
-?/. - c.1400C>T r.(?) p.(Thr467Ile)
?/. - c.1400C>T r.(?) p.(Thr467Ile)
?/. - c.1400C>T r.(?) p.(Thr467Ile)
-/. - c.1405T>A r.(?) p.(Ser469Thr)
-/. - c.1405T>A r.(?) p.(Ser469Thr)
+/. - c.1477C>T r.(?) p.(Arg493*)
+/. - c.1477C>T r.(?) p.(Arg493Ter)
?/. - c.1495C>T r.(?) p.(Arg499Cys)
?/. - c.1495C>T r.(?) p.(Arg499Cys)
?/. - c.1495C>T r.(?) p.(Arg499Cys)
?/. - c.1495C>T r.(?) p.(Arg499Cys)
-/. - c.1495C>T r.(?) p.(Arg499Cys)
-?/. - c.1504G>A r.(?) p.(Gly502Ser)
?/. - c.1531C>T r.(?) p.(Leu511Phe)
?/. - c.1643G>A r.(?) p.(Arg548His)
-/. - c.1643G>T r.(?) p.(Arg548Leu)
-/. - c.1643G>T r.(?) p.(Arg548Leu)
-/. - c.1643G>T r.(?) p.(Arg548Leu)
?/. - c.1927G>A r.(?) p.(Ala643Thr)
-?/. - c.1927G>T r.(?) p.(Ala643Ser)
-/. - c.1956-48C>T r.(=) p.(=)
?/. - c.2032A>G r.(?) p.(Met678Val)
-?/. - c.2076A>T r.(?) p.(Thr692=)
-?/. - c.2076A>T r.(?) p.(Thr692=)
-/. - c.2214+7C>T r.(=) p.(=)
?/. - c.2303A>C r.(?) p.(Asn768Thr)
-/. - c.2352C>T r.(?) p.(Asp784=)
-?/. - c.2692A>G r.(?) p.(Thr898Ala)
-?/. - c.2728G>A r.(?) p.(Val910Ile)
+?/. 7 c.2827G>C r.(?) p.(Ala943Pro)
-?/. - c.3000C>T r.(?) p.(Ser1000=)
+/. - c.3058C>T r.(?) p.(Gln1020Ter)
-/. - c.3132C>T r.(?) p.(His1044=)
-?/. - c.3279+12T>C r.(=) p.(=)
-?/. - c.3565A>G r.(?) p.(Ser1189Gly)
?/. 12 c.3583C>T r.(?) p.(Arg1195Trp)
+/. - c.3679del r.(?) p.(Val1227Serfs*7)
-?/. - c.3814+13T>G r.(=) p.(=)
-/. - c.3814+122A>T r.(=) p.(=)
-?/. - c.3837G>A r.(?) p.(Ser1279=)
-/. - c.4054-13del r.(=) p.(=)
-/. - c.4263G>A r.(?) p.(Ser1421=)
?/. - c.4280A>G r.(?) p.(Gln1427Arg)
-/. - c.4282-54G>A r.(=) p.(=)
?/. - c.4318T>A r.(?) p.(Cys1440Ser)
+/. - c.4451C>T r.(?) p.(Ser1484Leu)
?/. - c.4463A>C r.(?) p.(His1488Pro)
?/. - c.4640C>T r.(?) p.(Thr1547Met)
-/. - c.4724G>C r.(?) p.(Arg1575Pro)
-/. - c.4724G>C r.(?) p.(Arg1575Pro)
-/. - c.4733A>G r.(?) p.(Asn1578Ser)
-/. - c.4795+42T>C r.(=) p.(=)
-?/. - c.4848G>T r.(?) p.(Gln1616His)
-/. - c.4918-109G>A r.(=) p.(=)
-/. - c.5035+12C>A r.(=) p.(=)
-/. - c.5035+12C>A r.(=) p.(=)
-/. - c.5035+12C>A r.(=) p.(=)
?/. - c.5186G>A r.(?) p.(Arg1729Gln)
-/. - c.5330C>T r.(?) p.(Thr1777Ile)
-/. - c.5330C>T r.(?) p.(Thr1777Ile)
-/. - c.5458+7G>A r.(=) p.(=)
+/. - c.5559T>G r.(?) p.(Tyr1853Ter)
+/. - c.5578G>T r.(?) p.(Glu1860Ter)
-/. - c.5669C>T r.(?) p.(Pro1890Leu)
?/. 26 c.5714A>G r.(?) p.(His1905Arg)
-/. - c.5780A>G r.(?) p.(His1927Arg)
-/. - c.5780A>G r.(?) p.(His1927Arg)
-/. - c.5780A>G r.(?) p.(His1927Arg)
-/. - c.6133-54G>T r.(=) p.(=)
-?/. - c.6169A>C r.(?) p.(Thr2057Pro)
-/. - c.6324C>G r.(?) p.(Val2108=)
+/. - c.6377_6378del r.(?) p.(Lys2126ArgfsTer17)
-?/. - c.6564G>A r.(?) p.(Val2188=)
?/. - c.6752C>A r.(?) p.(Ser2251Tyr)
-?/. - c.6825C>T r.(?) p.(Leu2275=)
-/. - c.*5G>C r.(=) p.(=)
-/. - c.*28A>G r.(=) p.(=)
-?/. - c.*166G>C r.(=) p.(=)
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