Transcript #00023946 (NM_001111125.1, IQSEC2 gene)

Transcript name transcript variant 1
Gene name IQSEC2 (IQ motif and Sec7 domain 2)
Chromosome X
Transcript - NCBI ID NM_001111125.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001104595.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

181 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1i_15_ c.(?_737+6067)_*1336{2} r.? p.?
+/. _1i_15_ c.(?_737+6067)_*1336{2} r.? p.?
+/. _1i_15_ c.(?_737+6067)_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+/. _1i_15_ c.(?_737+5535)_*1336{2} r.? p.?
+/. _1_15_ c.-201_*1336{2} r.? p.?
+?/. - c.3G>A r.(?) p.?
?/. - c.32C>T r.(?) p.(Pro11Leu)
+/. - c.169G>T r.(?) p.(Glu57*)
-?/. - c.188A>G r.(?) p.(Glu63Gly)
?/. - c.188A>G r.(?) p.(Glu63Gly)
+/. - c.211G>T r.(?) p.(Glu71*)
-?/. - c.214C>T r.(?) p.(=)
-?/. - c.241G>A r.(?) p.(Asp81Asn)
?/. - c.343G>T r.(?) p.(Gly115Cys)
-?/. - c.431C>T r.(?) p.(Thr144Ile)
-?/. - c.435C>T r.(?) p.(=)
-?/. - c.435C>T r.(?) p.(=)
-/. - c.477G>A r.(?) p.(=)
-?/. - c.494C>T r.(?) p.(Ala165Val)
-?/. - c.505G>C r.(?) p.(Glu169Gln)
?/. - c.560G>A r.(?) p.(Gly187Asp)
?/. - c.560G>A r.(?) p.(Gly187Asp)
+/+ 1 c.566C>A r.(?) p.(Ser189*)
-?/. - c.578G>C r.(?) p.(Gly193Ala)
?/. - c.578G>C r.(?) p.(Gly193Ala)
-?/. - c.578G>C r.(?) p.(Gly193Ala)
-?/. - c.669C>T r.(?) p.(=)
-/. - c.708-98T>A r.(=) p.(=)
-?/. - c.708-3C>T r.spl? p.?
-?/. - c.708A>G r.(?) p.(=)
+/. 2i c.737+2714_737+2715ins[NC_000004.11:g.183693432_183756173] r.spl p.(?)
-?/. - c.738-10999G>A r.(=) p.(=)
-?/. - c.738-10976G>A r.(=) p.(=)
+/. - c.738-1G>C r.spl? p.?
-?/. - c.776C>T r.(?) p.(Ala259Val)
-?/. - c.783T>C r.(?) p.(=)
+/. - c.804del r.(?) p.(Tyr269Thrfs*3)
?/. - c.889C>T r.(?) p.(Arg297Cys)
+/. - c.928G>T r.(?) p.(Glu310*)
-?/. 3i c.999+341G>A r.(=) p.(=)
+/. 4 c.1075C>T r.(?) p.(Arg359Cys)
-/. - c.1210G>A r.(?) p.(Ala404Thr)
+/. - c.1399C>T r.(?) p.(Gln467*)
?/. - c.1401+2T>G r.spl? p.?
-?/. 4i c.1401+200del r.(=) p.(=)
-?/. 4i c.1402-65C>T r.(=) p.(=)
-?/. 4i c.1402-65C>T r.(=) p.(=)
-?/. - c.1402-9dup r.(=) p.(=)
-?/. - c.1402-9dup r.(=) p.(=)
?/. - c.1417G>A r.(?) p.(Glu473Lys)
?/. - c.1417G>A r.(?) p.(Glu473Lys)
-?/. - c.1485G>T r.(?) p.(Gln495His)
+/. - c.1510del r.(?) p.(Gln504Serfs*103)
-?/. - c.1592G>C r.(?) p.(Arg531Pro)
?/. - c.1592G>C r.(?) p.(Arg531Pro)
-?/. - c.1625G>A r.(?) p.(Arg542Gln)
-?/. - c.1653C>T r.(?) p.(=)
+/. - c.1800dup r.(?) p.(Asp601*)
+?/. 5 c.1813_1814del r.(?) p.(Asp605Profs*3)
+?/. 5 c.1813_1814del r.(?) p.(Asp605Profs*3)
-?/. - c.1836C>T r.(?) p.(Arg612=)
+/. - c.1859del r.(?) p.(Val620Glyfs*13)
?/. - c.2011G>A r.(?) p.(Gly671Arg)
+/. - c.2052_2053del r.(?) p.(Cys684*)
+/. - c.2052_2053del r.(?) p.(Cys684*)
-?/. - c.2139C>T r.(?) p.(=)
-?/. - c.2174C>T r.(?) p.(Pro725Leu)
+/. 5 c.2203C>T r.(?) p.(Gln735*)
+/. - c.2272C>T r.(?) p.(Arg758*)
+/. 5 c.2273G>A r.(?) p.(Arg758Gln)
+?/. - c.2278G>A r.(?) p.(Gly760Ser)
+?/. - c.2278G>A r.(?) p.(Gly760Ser)
-/. - c.2297+14G>A r.(=) p.(=)
-?/. 5i c.2297+228C>G r.(=) p.(=)
-?/. 5i c.2297+228C>G r.(=) p.(=)
-?/. 5i c.2298-258A>G r.(=) p.(=)
-?/. 5i c.2298-258A>G r.(=) p.(=)
+/. - c.2298-2A>G r.spl? p.?
+/. - c.2317C>T r.(?) p.(Gln773*)
+/. - c.2317C>T r.(?) p.(Gln773Ter)
-?/. - c.2322T>C r.(?) p.(=)
?/. - c.2329G>A r.(?) p.(Glu777Lys)
?/. - c.2333G>A r.(?) p.(Arg778Gln)
?/. - c.2377C>A r.(?) p.(Leu793Met)
?/. - c.2383C>T r.(?) p.(Arg795Trp)
+/. - c.2401C>T r.(?) p.(Gln801Ter)
+/. 6 c.2402A>C r.(?) p.(Gln801Pro)
+/. - c.2465_2466del r.(?) p.(Val822Glyfs*3)
-/. - c.2481C>T r.(?) p.(=)
?/. - c.2507C>T r.(?) p.(Ala836Val)
-?/. - c.2508G>A r.(?) p.(=)
-?/. - c.2508G>A r.(?) p.(=)
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