Transcript #00018957 (NM_175875.4, SIX5 gene)

Transcript name SIX homeobox 5
Gene name SIX5 (SIX homeobox 5)
Chromosome 19
Transcript - NCBI ID NM_175875.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_787071.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

68 entries on 1 page. Showing entries 1 - 68.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-3874C>G r.(?) p.(=)
?/. - c.-2969G>T r.(?) p.(=)
?/. - c.-2952C>T r.(?) p.(=)
?/. - c.-2952C>T r.(?) p.(=)
-?/. - c.-2785A>C r.(?) p.(=)
-?/. - c.-2559C>T r.(?) p.(=)
?/. - c.-2186C>T r.(?) p.(=)
-?/. - c.-2141C>T r.(?) p.(=)
-?/. - c.-1719C>G r.(?) p.(=)
-?/. - c.-1686C>T r.(?) p.(=)
-?/. - c.43G>A r.(?) p.(Gly15Arg)
?/. - c.43G>T r.(?) p.(Gly15Trp)
+/. 1 c.44G>C r.(?) p.(Gly15Ala)
-?/. - c.81G>A r.(?) p.(Glu27=)
-/. - c.156_161dup r.(?) p.(Gly55_Ala56dup)
-/. - c.156_161dup r.(?) p.(Gly55_Ala56dup)
-?/. - c.213G>T r.(?) p.(Gly71=)
-?/. - c.224A>C r.(?) p.(Glu75Ala)
-?/. - c.226G>C r.(?) p.(Ala76Pro)
-?/. - c.375G>C r.(?) p.(Pro125=)
+/+ 1 c.472G>A r.(?) p.(Ala158Thr)
?/. - c.583C>T r.(?) p.(Pro195Ser)
-?/. - c.636C>T r.(?) p.(Ser212=)
+/. - c.675C>A r.(?) p.(Tyr225*)
-/. - c.732G>A r.(?) p.(Gln244=)
-?/. - c.732G>A r.(?) p.(Gln244=)
-?/. - c.811G>A r.(?) p.(Asp271Asn)
-?/. - c.886G>A r.(?) p.(Ala296Thr)
+/+ 2 c.886G>A r.(?) p.(Ala296Thr)
-?/. - c.886G>A r.(?) p.(Ala296Thr)
?/. - c.947C>G r.(?) p.(Pro316Arg)
-?/. - c.1014C>A r.(?) p.(Leu338=)
?/. - c.1091G>T r.(?) p.(Gly364Val)
-?/. - c.1091G>T r.(?) p.(Gly364Val)
-?/. - c.1091G>T r.(?) p.(Gly364Val)
+/+ 2 c.1093G>A r.(?) p.(Gly365Arg)
?/. - c.1184T>C r.(?) p.(Leu395Pro)
+/. - c.1186G>T r.(?) p.(Glu396Ter)
-?/. - c.1425G>T r.(?) p.(Leu475=)
?/. - c.1426C>T r.(?) p.(Pro476Ser)
-?/. - c.1478C>T r.(?) p.(Pro493Leu)
-?/. - c.1498G>A r.(?) p.(Gly500Arg)
-?/. - c.1498G>A r.(?) p.(Gly500Arg)
-?/. - c.1617C>T r.(?) p.(Phe539=)
?/. - c.1655C>T r.(?) p.(Thr552Met)
+/+ 3 c.1655C>T r.(?) p.(Thr552Met)
-?/. - c.1656G>A r.(?) p.(Thr552=)
-/. - c.1666= r.(=) p.(Val556=)
-?/. - c.1681A>G r.(?) p.(Ile561Val)
-?/. - c.1685T>C r.(?) p.(Ile562Thr)
-?/. - c.1773G>T r.(?) p.(Thr591=)
-?/. - c.1773G>T r.(?) p.(Thr591=)
+/+ 3 c.1817C>T r.(?) p.(Pro606Leu)
-?/. - c.1852T>C r.(?) p.(Ser618Pro)
-/. - c.1903C>T r.(?) p.(Pro635Ser)
-/. - c.1903C>T r.(?) p.(Pro635Ser)
-?/. - c.1944G>A r.(?) p.(Pro648=)
-/. - c.1963C>T r.(?) p.(Leu655=)
-/. - c.1963C>T r.(?) p.(Leu655=)
-?/. - c.1978G>A r.(?) p.(Ala660Thr)
-/. - c.1979C>A r.(?) p.(Ala660Glu)
-?/. - c.1983C>T r.(?) p.(Ala661=)
?/. - c.2015G>A r.(?) p.(Ser672Asn)
-/. - c.2077G>A r.(?) p.(Val693Met)
-/. - c.2077G>A r.(?) p.(Val693Met)
-/. - c.2077G>A r.(?) p.(Val693Met)
-?/. - c.2088G>A r.(?) p.(Leu696=)
+?/. - c.2189C>T r.(?) p.(Ser730Leu)
Legend   How to query