Transcript #00008579 (NM_053274.2, GLMN gene)

Transcript name glomulin, FKBP associated protein
Gene name GLMN (glomulin, FKBP associated protein)
Chromosome 1
Transcript - NCBI ID NM_053274.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_444504.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-188G>C r.(?) p.(=)
-/. - c.40-7_40-6del r.(=) p.(=)
-/. - c.40-6del r.(=) p.(=)
-?/. - c.40-6del r.(=) p.(=)
-?/. - c.40-6dup r.(=) p.(=)
-/. - c.40-6dup r.(=) p.(=)
-?/. - c.40-5G>T r.spl? p.?
+/. - c.108C>A r.(?) p.(Cys36*)
-?/. - c.144T>G r.(?) p.(Ile48Met)
-?/. - c.144T>G r.(?) p.(Ile48Met)
+/. - c.157_161del r.(?) p.(Lys53Ter)
+/+ 3 c.157_161del r.(?) p.(Lys53)*
-?/. - c.271G>A r.(?) p.(Asp91Asn)
-/. - c.271G>A r.(?) p.(Asp91Asn)
+/. - c.423T>A r.(?) p.(Tyr141*)
-?/. - c.436G>A r.(?) p.(Ala146Thr)
-?/. - c.436G>A r.(?) p.(Ala146Thr)
-/. - c.519T>C r.(?) p.(Leu173=)
+?/. 8 c.761C>G r.(761c>g) p.(Pro254Arg)
?/. - c.761C>G r.(?) p.(Pro254Arg)
-?/. - c.899T>C r.(?) p.(Ile300Thr)
+/. - c.920T>G r.(?) p.(Leu307Ter)
-?/. - c.977+7T>A r.(=) p.(=)
-?/. - c.977+7T>A r.(=) p.(=)
-/. - c.1057T>C r.(?) p.(Tyr353His)
+/. - c.1241C>G r.(?) p.(Ser414Ter)
+/. - c.1242del r.(?) p.(Gly415ValfsTer18)
+/. - c.1470_1473del r.(?) p.(Asn490LysfsTer16)
+/. - c.1470_1473del r.(?) p.(Asn490LysfsTer16)
-?/. - c.1474-15_1474-12del r.(=) p.(=)
+/. 18 c.1630G>T r.(?) p.(Glu544*)
-/. - c.1668+19_1668+20del r.(=) p.(=)
-/. - c.1668+19_1668+20del r.(=) p.(=)
-/. - c.*115G>C r.(=) p.(=)
?/. - c.*864G>T r.(=) p.(=)
?/. - c.*865G>T r.(=) p.(=)
?/. - c.*2213del r.(?) p.(=)
-?/. - c.*2263C>G r.(=) p.(=)
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