Transcript #00006539

Transcript name GTPase activating protein and VPS9 domains 1
Gene name GAPVD1 (GTPase activating protein and VPS9 domains 1)
Chromosome 9
Transcript - NCBI ID NM_015635.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_056450.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-31G>A r.(=) p.(=)
?/? c.-6T>C r.(=) p.(=)
?/? c.54A>G r.(=) p.(=)
?/? c.128G>A r.(?) p.(Arg43His)
?/? c.178A>T r.(?) p.(Ile60Leu)
?/? c.185+11G>T r.(=) p.(=)
?/? c.185+13T>C r.(=) p.(=)
?/? c.185+42A>G r.(=) p.(=)
?/? c.251A>G r.(?) p.(Asp84Gly)
?/? c.286T>C r.(?) p.(Tyr96His)
?/? c.300G>A r.(=) p.(=)
?/? c.308T>C r.(?) p.(Leu103Ser)
?/? c.322C>T r.(?) p.(Arg108Cys)
?/? c.386T>C r.(?) p.(Ile129Thr)
?/? c.392C>G r.(?) p.(Thr131Arg)
?/? c.421A>G r.(?) p.(Ile141Val)
?/? c.461G>T r.(?) p.(Arg154Leu)
?/? c.509T>G r.(?) p.(Leu170Arg)
?/? c.534C>T r.(=) p.(=)
?/? c.597T>G r.(=) p.(=)
?/? c.696A>G r.(=) p.(=)
?/? c.720A>G r.(=) p.(=)
?/? c.809A>G r.(?) p.(Lys270Arg)
?/? c.850G>A r.(?) p.(Val284Met)
?/? c.879T>C r.(=) p.(=)
?/? c.981A>G r.(?) p.(Ile327Met)
?/? c.987C>T r.(=) p.(=)
?/? c.1021C>T r.(=) p.(=)
?/? c.1029+6C>T r.(=) p.(=)
?/? c.1030-58C>T r.(=) p.(=)
?/? c.1030-46T>C r.(=) p.(=)
?/? c.1030-21T>C r.(=) p.(=)
?/? c.1030-19del r.(=) p.(=)
?/? c.1030-7G>T r.(=) p.(=)
?/? c.1030-3C>T r.spl? p.?
?/? c.1065C>T r.(=) p.(=)
?/? c.1107G>A r.(=) p.(=)
?/? c.1116+14T>C r.(=) p.(=)
?/? c.1128C>A r.(=) p.(=)
?/? c.1129G>A r.(?) p.(Ala377Thr)
?/? c.1143T>C r.(=) p.(=)
?/? c.1148T>C r.(?) p.(Ile383Thr)
?/? c.1149T>C r.(=) p.(=)
?/? c.1234A>C r.(?) p.(Ser412Arg)
?/? c.1251+7G>A r.(=) p.(=)
?/? c.1251+28T>A r.(=) p.(=)
?/? c.1251+32G>A r.(=) p.(=)
?/? c.1251+50C>T r.(=) p.(=)
?/? c.1251+51G>A r.(=) p.(=)
?/? c.1252-21A>G r.(=) p.(=)
?/? c.1252-15C>T r.(=) p.(=)
?/? c.1287A>T r.(?) p.(Gln429His)
?/? c.1294G>A r.(?) p.(Glu432Lys)
?/? c.1324G>A r.(?) p.(Ala442Thr)
?/? c.1371G>A r.(?) p.(Met457Ile)
?/? c.1382A>G r.(?) p.(Asn461Ser)
?/? c.1418A>G r.(?) p.(Asn473Ser)
?/? c.1428T>C r.(=) p.(=)
?/? c.1442-51_1442-49del r.(=) p.(=)
?/? c.1458C>T r.(=) p.(=)
?/? c.1460G>A r.(?) p.(Arg487His)
?/? c.1469T>C r.(?) p.(Met490Thr)
?/? c.1498G>A r.(?) p.(Gly500Arg)
?/? c.1518T>C N/A N/A
?/? c.1573C>G r.(?) p.(Leu525Val)
?/? c.1602+3A>T r.spl? p.?
?/? c.1603-47C>A r.(=) p.(=)
?/? c.1622C>T r.(?) p.(Ser541Leu)
?/? c.1623G>A r.(=) p.(=)
?/? c.1693T>G r.(?) p.(Phe565Val)
?/? c.1732+11A>G r.(=) p.(=)
?/? c.1733-44T>C r.(=) p.(=)
?/? c.1733-41C>G r.(=) p.(=)
?/? c.1733-34_1733-32del r.(=) p.(=)
?/? c.1733-15T>C r.(=) p.(=)
?/? c.1745G>A r.(?) p.(Arg582His)
?/? c.1757T>C r.(?) p.(Val586Ala)
?/? c.1858+10A>G r.(=) p.(=)
?/? c.1858+51T>G r.(=) p.(=)
?/? c.1859-32A>C r.(=) p.(=)
?/? c.1859-11G>T r.(=) p.(=)
?/? c.1938C>T r.(=) p.(=)
?/? c.2003T>C r.(?) p.(Ile668Thr)
?/? c.2033-50A>G r.(=) p.(=)
?/? c.2033-24C>T r.(=) p.(=)
?/? c.2051T>G r.(?) p.(Met684Arg)
?/? c.2100C>T r.(=) p.(=)
?/? c.2116A>G r.(?) p.(Thr706Ala)
?/? c.2135G>C r.(?) p.(Ser712Thr)
?/? c.2173+12G>A r.(=) p.(=)
?/? c.2174-52G>A r.(=) p.(=)
?/? c.2201G>A r.(?) p.(Arg734His)
?/? c.2302G>A r.(?) p.(Val768Met)
?/? c.2306C>T r.(?) p.(Ser769Phe)
?/? c.2308+40G>A r.(=) p.(=)
?/? c.2309-39_2309-37del r.(=) p.(=)
?/? c.2425C>A r.(?) p.(His809Asn)
?/? c.2428+10G>A r.(=) p.(=)
?/? c.2428+50G>T r.(=) p.(=)
?/? c.2429-17T>C r.(=) p.(=)
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