Transcript #00001057

Transcript name transcript variant 2
Gene name ARL13A (ADP-ribosylation factor-like 13A)
Chromosome X
Transcript - NCBI ID NM_001012990.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001013008.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

49 entries on 1 page. Showing entries 1 - 49.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-14-33_-14-31del r.(=) p.(=)
?/? c.-14-30C>A r.(=) p.(=)
?/? c.7C>T r.(?) p.(Arg3Trp)
?/? c.8G>A r.(?) p.(Arg3Gln)
?/? c.41C>G r.(?) p.(Thr14Arg)
?/? c.55C>T r.(?) p.(Arg19*)
?/? c.59+38T>C r.(=) p.(=)
?/? c.60-31C>G r.(=) p.(=)
?/? c.84_85insT r.(?) p.(Leu29Phefs*20)
?/? c.130+13G>A r.(=) p.(=)
?/? c.131-8A>C r.(=) p.(=)
?/? c.131-3C>T r.spl? p.?
?/? c.152A>T r.(?) p.(His51Leu)
?/? c.166G>A r.(?) p.(Glu56Lys)
?/? c.193T>C r.(?) p.(Tyr65His)
?/? c.245G>A r.(?) p.(Trp82*)
?/? c.285C>T r.(=) p.(=)
?/? c.347del r.(?) p.(Asp117Ilefs*10)
?/? c.349G>A r.(?) p.(Asp117Asn)
?/? c.380+30G>A r.(=) p.(=)
?/? c.380+43T>A r.(=) p.(=)
?/? c.381-3T>C r.spl? p.?
?/? c.482G>A r.(?) p.(Arg161Gln)
?/? c.486+13C>T r.(=) p.(=)
?/? c.487-13_487-9del r.(=) p.(=)
?/? c.487-5C>T r.spl? p.?
?/? c.487-1G>C r.spl? p.?
?/? c.502A>G r.(?) p.(Ile168Val)
?/? c.555G>C r.(?) p.(Trp185Cys)
?/? c.583C>G r.(?) p.(Leu195Val)
?/? c.644C>T r.(?) p.(Ser215Leu)
?/? c.654-37C>T r.(=) p.(=)
?/? c.654-36G>A r.(=) p.(=)
?/? c.654-35T>C r.(=) p.(=)
?/? c.654-8T>C r.(=) p.(=)
?/? c.715G>A r.(?) p.(Glu239Lys)
?/? c.744+19G>A r.(=) p.(=)
?/? c.744+40C>T r.(=) p.(=)
?/? c.745-30T>A r.(=) p.(=)
?/? c.745-16_745-14del r.(=) p.(=)
?/? c.802G>T r.(?) p.(Glu268*)
?/? c.810_811insA r.(?) p.(Glu272Argfs*3)
?/? c.816A>T r.(?) p.(Glu272Asp)
?/? c.819T>C r.(=) p.(=)
?/? c.837G>T r.(?) p.(Met279Ile)
?/? c.854C>T r.(?) p.(Thr285Met)
?/? c.*29A>G r.(=) p.(=)
?/? c.*37G>T r.(=) p.(=)
?/? c.*108A>G r.(=) p.(=)
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