Transcript #00000432 (NM_025184.3, EFHC2 gene)

Transcript name EF-hand domain (C-terminal) containing 2
Gene name EFHC2 (EF-hand domain (C-terminal) containing 2)
Chromosome X
Transcript - NCBI ID NM_025184.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_079460.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

34 entries on 1 page. Showing entries 1 - 34.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. 1 c.-60_-56= r.(=) p.(=)
?/. 1 c.-60_-56= r.(=) p.(=)
?/. 1 c.-60_-56= r.(=) p.(=)
-?/. - c.21G>A r.(?) p.(Pro7=)
?/. 2 c.92A>G r.(?) p.(Asn31Ser)
?/. 2 c.92A>G r.(?) p.(Asn31Ser)
-?/? 2 c.92A>G r.(?) p.(Asn31Ser)
-?/. - c.170G>A r.(?) p.(Cys57Tyr)
?/? 2 c.170G>A r.(?) p.(Cys57Tyr)
-?/. - c.192T>G r.(?) p.(Asp64Glu)
?/. 9 c.231+246A>G r.(?) p.(=)
?/. 2i c.231+246A>G r.(?) p.(=)
?/. - c.404G>A r.(?) p.(Arg135Gln)
+/? 4 c.404G>A r.(?) p.(Arg135Gln)
?/. - c.416C>T r.(?) p.(Pro139Leu)
-?/. - c.417G>A r.(?) p.(Pro139=)
?/. - c.625C>T r.(?) p.(Pro209Ser)
?/. - c.625C>T r.(?) p.(Pro209Ser)
-?/. - c.632G>A r.(?) p.(Arg211His)
?/. - c.1132T>C r.(?) p.(Cys378Arg)
?/. 9 c.1289C>A r.(?) p.(Ser430Tyr)
-?/? 9 c.1289C>A r.(?) p.(Ser430Tyr)
?/. 9 c.1289C>A r.(?) p.(Ser430Tyr)
-?/. - c.1356G>A r.(?) p.(Met452Ile)
-?/. - c.1516G>A r.(?) p.(Glu506Lys)
?/? 10 c.1519G>C r.(?) p.(Glu507Gln)
?/. 10i c.1620+178G>A r.(?) p.(=)
?/. 10i c.1620+178G>A r.(?) p.(=)
-?/. - c.1641A>G r.(?) p.(Lys547=)
?/. 11i c.1751+336C>T r.(?) p.(=)
?/. 11i c.1751+336C>T r.(?) p.(=)
?/. 12 c.1901A>G r.(?) p.(Glu634Gly)
?/. 14i c.2149-220A>G r.(?) p.(=)
?/. 14i c.2149-220A>G r.(?) p.(=)
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