Transcript #00008371

Transcript name GATA binding protein 6
Gene name GATA6 (GATA binding protein 6)
Chromosome 18
Transcript - NCBI ID NM_005257.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005248.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

32 entries on 1 page. Showing entries 1 - 32.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.43G>C r.(?) p.(Gly15Arg)
-/. - c.43G>C r.(?) p.(Gly15Arg)
-?/. - c.43G>C r.(?) p.(Gly15Arg)
?/. - c.60C>A r.(?) p.(Asp20Glu)
-?/. - c.149G>A r.(?) p.(Gly50Glu)
-?/. - c.201G>T r.(?) p.(=)
-/. - c.222G>A r.(?) p.(=)
?/. - c.271C>T r.(?) p.(Pro91Ser)
?/. - c.320C>G r.(?) p.(Ser107Trp)
-?/. - c.335T>G r.(?) p.(Leu112Trp)
?/. - c.531_545dup r.(?) p.(Ala179_Ala183dup)
-?/. - c.592C>G r.(?) p.(Leu198Val)
+/. - c.712G>T r.(?) p.(Gly238*)
+?/. - c.730_737dup r.(?) p.(Gly250Argfs*47)
-?/. - c.849G>A r.(?) p.(=)
-?/. - c.889G>A r.(?) p.(Gly297Ser)
-?/. - c.1006C>T r.(?) p.(Pro336Ser)
-?/. - c.1023G>C r.(?) p.(=)
-?/. - c.1027G>A r.(?) p.(Ala343Thr)
?/. - c.1106C>G r.(?) p.(Pro369Arg)
+?/. - c.1170C>A r.(?) p.(Cys390*)
+/. - c.1303-2A>G r.spl? p.?
?/. - c.1365G>A r.(?) p.(Trp455*)
+/. - c.1366C>T r.(?) p.(Arg456Cys)
+?/. - c.1367G>A r.(?) p.(Arg456His)
-/. - c.1374C>T r.(?) p.(=)
+/. - c.1417_1426del r.(?) p.(Lys473Glyfs*8)
-/. - c.1602A>G r.(?) p.(=)
-?/. - c.1620+7A>G r.(=) p.(=)
-/. - c.1620+7A>G r.(=) p.(=)
-?/. - c.1620+7A>G r.(=) p.(=)
-?/. - c.1723G>C r.(?) p.(Ala575Pro)
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