Transcript #00000158 (NM_001184.3, ATR gene)

Transcript name ataxia telangiectasia and Rad3 related
Gene name ATR (ataxia telangiectasia and Rad3 related)
Chromosome 3
Transcript - NCBI ID NM_001184.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001175.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/? 1_47 c.(?_1)_(*_?)del r.0 p.0
-?/. - c.195C>T r.(?) p.(Ser65=)
-?/. - c.196G>A r.(?) p.(Val66Met)
-?/. - c.268C>T r.(?) p.(His90Tyr)
-?/. - c.268C>T r.(?) p.(His90Tyr)
-/. - c.293-20C>T r.(=) p.(=)
+/. - c.325C>T r.(?) p.(Arg109Trp)
?/. - c.325C>T r.(?) p.(Arg109Trp)
-?/. - c.325C>T r.(?) p.(Arg109Trp)
?/. - c.325C>T r.(?) p.(Arg109Trp)
-?/. - c.407G>C r.(?) p.(Ser136Thr)
-/. - c.423T>C r.(?) p.(Ile141=)
-?/. - c.483A>G r.(?) p.(Arg161=)
-/. - c.632T>C r.(?) p.(Met211Thr)
-?/. - c.644G>A r.(?) p.(Arg215His)
-?/. - c.744A>C r.(?) p.(Ala248=)
-?/. - c.816A>G r.(?) p.(Ser272=)
-/. - c.891G>C r.(?) p.(Lys297Asn)
-?/. - c.891G>C r.(?) p.(Lys297Asn)
-?/. - c.891G>C r.(?) p.(Lys297Asn)
-?/. - c.898A>C r.(?) p.(Lys300Gln)
-?/. - c.946G>A r.(?) p.(Val316Ile)
-?/. - c.946G>A r.(?) p.(Val316Ile)
-?/. - c.946G>A r.(?) p.(Val316Ile)
-?/. - c.992A>G r.(?) p.(Asp331Gly)
-?/. - c.992A>G r.(?) p.(Asp331Gly)
-?/. - c.993C>T r.(?) p.(Asp331=)
-?/. - c.1047A>G r.(?) p.(Leu349=)
?/. - c.1127G>A r.(?) p.(Cys376Tyr)
-?/. - c.1180G>A r.(?) p.(Gly394Ser)
-?/. - c.1326A>G r.(?) p.(Lys442=)
-/. - c.1328G>C r.(?) p.(Arg443Thr)
?/. - c.1417C>T r.(?) p.(Leu473Phe)
-?/. - c.1428C>A r.(?) p.(Ser476=)
?/. - c.1485_1487del r.(?) p.(Val496del)
?/. - c.1578_1580del r.(?) p.(Lys527del)
-?/. - c.1591G>A r.(?) p.(Val531Met)
?/. - c.1602G>C r.(?) p.(Trp534Cys)
?/. - c.1626A>G r.(?) p.(Lys542=)
-?/. - c.1699G>A r.(?) p.(Val567Met)
-/. - c.1776T>A r.(?) p.(Gly592=)
?/. - c.1776T>A r.(=) p.(=)
-/. - c.1776T>A r.(?) p.(Gly592=)
-/. - c.1815T>C r.(?) p.(Asp605=)
?/. - c.1815T>C r.(=) p.(=)
-/. - c.1815T>C r.(?) p.(Asp605=)
?/. - c.1885+67T>C r.(=) p.(=)
-?/. - c.1950G>A r.(?) p.(Glu650=)
?/. - c.1993G>A r.(?) p.(Glu665Lys)
+/? 9 c.2022A>G r.[1886_1996del, 1886_2014del, 1886_2078del] p.(Gly674=)
+/? 9 c.2022A>G r.[1886_1996del, 1886_2014del, 1886_2078del] p.(Gly674=)
?/. - c.2048A>G r.(?) p.(Asn683Ser)
?/. - c.2066C>T r.(?) p.(Pro689Leu)
?/. - c.2078T>C r.(?) p.(Ile693Thr)
-/. - c.2079-13T>A r.(=) p.(=)
?/. - c.2079-13T>A r.(=) p.(=)
-?/. - c.2079-13T>A r.(=) p.(=)
?/. - c.2290A>G r.(?) p.(Lys764Glu)
-?/. - c.2290A>G r.(?) p.(Lys764Glu)
?/. - c.2290A>G r.(?) p.(Lys764Glu)
?/. - c.2320del r.(?) p.(Ile774Tyrfs*5)
-?/. - c.2320del r.(?) p.(Ile774TyrfsTer5)
-?/. - c.2342-9G>A r.(=) p.(=)
-?/. - c.2437A>G r.(?) p.(Met813Val)
-/. - c.2442A>G r.(?) p.(Glu814=)
+/. - c.2543T>G r.(?) p.(Leu848Ter)
?/. - c.2634G>A r.(?) p.(Arg878=)
-?/. - c.2688G>A r.(?) p.(Leu896=)
?/. - c.2704T>C r.(?) p.(Ser902Pro)
?/. - c.2704T>C r.(?) p.(Ser902Pro)
-?/. - c.2776T>C r.(?) p.(Phe926Leu)
-?/. - c.2776T>C r.(?) p.(Phe926Leu)
-?/. - c.2776T>C r.(?) p.(Phe926Leu)
-?/. - c.2844A>C r.(?) p.(Ala948=)
-?/. - c.2875G>A r.(?) p.(Val959Met)
-?/. - c.2875G>A r.(?) p.(Val959Met)
-?/. - c.2875G>A r.(?) p.(Val959Met)
-?/. - c.2875G>A r.(?) p.(Val959Met)
-?/. - c.2979G>A r.(?) p.(Arg993=)
-?/. - c.2985A>G r.(?) p.(Leu995=)
-?/. - c.3120G>A r.(?) p.(Leu1040=)
-/. - c.3172-26T>A r.(=) p.(=)
-/. - c.3172-15A>T r.(=) p.(=)
-?/. - c.3172-7G>T r.(=) p.(=)
?/. - c.3339_3341del r.(?) p.(Ile1114del)
?/. - c.3339_3341del r.(?) p.(Ile1114del)
-?/. - c.3352C>A r.(?) p.(Leu1118Met)
-?/. - c.3360T>C r.(?) p.(Ala1120=)
-?/. - c.3372A>G r.(?) p.(Gln1124=)
-?/. - c.3424A>G r.(?) p.(Ser1142Gly)
-/. - c.3725+18A>G r.(=) p.(=)
-?/. - c.3888T>C r.(?) p.(Asn1296=)
?/. - c.3949A>C r.(?) p.(Lys1317Gln)
-?/. - c.4002G>A r.(?) p.(Gln1334=)
?/. - c.4066G>T r.(?) p.(Glu1356*)
-?/. - c.4153-15T>G r.(=) p.(=)
-?/. - c.4153-7G>T r.(=) p.(=)
-?/. - c.4153-6A>T r.(=) p.(=)
-?/. - c.4267-10G>A r.(=) p.(=)
-?/. - c.4306A>G r.(?) p.(Asn1436Asp)
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