Transcript #00001550 (NM_014725.4, STARD8 gene)

Transcript name transcript variant 2
Gene name STARD8 (StAR-related lipid transfer (START) domain containing 8)
Chromosome X
Transcript - NCBI ID NM_014725.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_055540.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

36 entries on 1 page. Showing entries 1 - 36.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-8G>A r.(?) p.(=)
-?/. 5 c.279C>T r.(?) p.(=)
-?/. - c.298A>G r.(?) p.(Ser100Gly)
-?/. - c.310C>T r.(?) p.(Arg104Trp)
-?/. - c.604C>A r.(?) p.(Pro202Thr)
?/. - c.641G>A r.(?) p.(Arg214Gln)
?/. 5 c.678A>C r.(?) p.(Lys226Asn)
?/. - c.728A>G r.(?) p.(Asp243Gly)
-?/. - c.733C>T r.(?) p.(His245Tyr)
-?/. - c.764G>A r.(?) p.(Arg255Gln)
-?/. - c.803C>T r.(?) p.(Thr268Met)
?/. 5 c.980G>A r.(?) p.(Arg327Gln)
-?/. - c.1026G>A r.(?) p.(Glu342=)
-?/. - c.1100C>T r.(?) p.(Pro367Leu)
-?/. - c.1208A>G r.(?) p.(Glu403Gly)
-?/. - c.1232C>T r.(?) p.(Pro411Leu)
?/. 5 c.1273G>A r.(?) p.(Gly425Arg)
?/. - c.1310_1312del r.(?) p.(Glu437del)
-?/. - c.1381G>A r.(?) p.(Ala461Thr)
?/. - c.1432C>T r.(?) p.(Arg478Trp)
?/. - c.1732G>A r.(?) p.(Val578Met)
?/. - c.1738C>T r.(?) p.(Arg580Cys)
?/. - c.1738C>T r.(?) p.(Arg580Cys)
-?/. - c.1790G>A r.(?) p.(Arg597His)
-?/. - c.2124C>T r.(?) p.(Ala708=)
?/. - c.2143G>A r.(?) p.(Ala715Thr)
-?/. - c.2175C>T r.(?) p.(Ser725=)
-?/. 10 c.2248A>C r.(?) p.(=)
?/. - c.2270G>A r.(?) p.(Ser757Asn)
?/. - c.2564C>T r.(?) p.(Pro855Leu)
?/. - c.2650C>T r.(?) p.(Arg884Trp)
?/. - c.2738G>A r.(?) p.(Ser913Asn)
-?/. - c.2761G>A r.(?) p.(Asp921Asn)
?/. - c.2984T>C r.(?) p.(Val995Ala)
?/. - c.*1156_*1157del r.(=) p.(=)
?/. - c.*1176_*1177del r.(=) p.(=)
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