Transcript #00010947 (NM_000228.2, LAMB3 gene)

Transcript name transcript variant 1
Gene name LAMB3 (laminin, beta 3)
Chromosome 1
Transcript - NCBI ID NM_000228.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000219.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

68 entries on 1 page. Showing entries 1 - 68.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.67C>T r.(?) p.(Arg23Cys)
+/. - c.124C>T r.(?) p.(Arg42Ter)
+/. - c.124C>T r.(?) p.(Arg42Ter)
-?/. 3 c.138C>T r.(=) p.(=)
-?/. 3i c.? r.? P.?
-?/. - c.184-14T>A r.(=) p.(=)
+/. - c.281G>A r.(?) p.(Trp94Ter)
-/. - c.291A>C r.(?) p.(Ser97=)
-/. - c.384C>T r.(?) p.(Pro128=)
-?/. 6 c.? r.? P.?
+/. - c.511_512del r.(?) p.(Val171SerfsTer10)
-?/. 6 c.541A>G r.(?) p.(Asn181Asp)
-?/. 6i c.564+10G>A r.(=) p.(=)
-?/. 7i c.628+143G>A r.(=) p.(=)
+/. - c.727C>T r.(?) p.(Gln243Ter)
+/. - c.727C>T r.(?) p.(Gln243Ter)
-?/. - c.778G>A r.(?) p.(Ala260Thr)
+/. - c.786del r.(?) p.(Lys262Asnfs*134)
-?/. 8i c.822+33G>C r.(=) p.(=)
-/. - c.823-15C>T r.(=) p.(=)
-?/. - c.858C>T r.(?) p.(Ala286=)
?/. - c.898C>T r.(?) p.(Arg300Trp)
?/. - c.911C>T r.(?) p.(Pro304Leu)
-?/. - c.929C>T r.(?) p.(Ala310Val)
+/. - c.958_1034dup r.(?) p.(Asn345LysfsTer77)
?/. - c.1015T>C r.(?) p.(Tyr339His)
?/. - c.1015T>C r.(?) p.(Tyr339His)
+/. - c.1063T>C r.(?) p.(Cys355Arg)
?/. - c.1070G>A r.(?) p.(Arg357Gln)
?/. - c.1099C>A r.(?) p.(Arg367Ser)
-?/. 10i c.? r.? P.?
-/. - c.1149G>A r.(=) p.(=)
-/. - c.1149G>A r.(=) p.(=)
+/. - c.1186_1196del r.(?) p.(Thr396CysfsTer12)
-?/. 12i c.1486-18G>A r.(=) p.(=)
-?/. 13 c.1579G>A r.(?) p.(Val527Met)
?/. - c.1681G>A r.(?) p.(Gly561Arg)
?/. - c.1706G>A r.(?) p.(Arg569Gln)
-/. - c.1716T>C r.(?) p.(Cys572=)
+/. - c.1823dup r.(?) p.(Ser608ArgfsTer23)
+/. - c.1903C>T r.(?) p.(Arg635Ter)
+/. - c.1903C>T r.(?) p.(Arg635Ter)
+?/. - c.1903C>T r.(?) p.(Arg635Ter)
+/. - c.1903C>T r.(?) p.(Arg635Ter)
+/. - c.1903C>T r.(?) p.(Arg635Ter)
+/. - c.1948C>T r.(?) p.(Gln650Ter)
+/. - c.1978C>T r.(?) p.(Arg660Ter)
-?/. 15i c.2137+38dup r.(=) p.(=)
-?/. - c.2403C>T r.(?) p.(Cys801=)
-?/. - c.2476G>A r.(?) p.(Gly826Ser)
-?/. 17i c.? r.? P.?
-?/. 17i c.2557-42C>G r.(=) p.(=)
?/. - c.2605C>A r.(?) p.(Arg869Ser)
-?/. - c.2625C>T r.(?) p.(Ser875=)
?/. - c.2665C>T r.(?) p.(Arg889Trp)
?/. - c.2686C>T r.(?) p.(Arg896Trp)
-?/. 18i c.? r.? P.?
-?/. 18i c.? r.? P.?
-/. - c.2702-12dup r.(=) p.(=)
-?/. 18i c.? r.? P.?
?/. - c.2750T>C r.(?) p.(Leu917Pro)
-?/. - c.2923G>A r.(?) p.(Ala975Thr)
?/. - c.2945A>G r.(?) p.(Asp982Gly)
-?/. - c.2945A>G r.(?) p.(Asp982Gly)
?/. - c.2962C>T r.(?) p.(Arg988Trp)
?/. - c.3191C>T r.(?) p.(Ala1064Val)
?/. - c.3427C>T r.(?) p.(Arg1143Cys)
+/. - c.3501C>A r.(?) p.(Tyr1167Ter)
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