Transcript #00000747 (NM_014845.5, FIG4 gene)

Transcript name FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
Gene name FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae))
Chromosome 6
Transcript - NCBI ID NM_014845.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_055660.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

153 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_1i c.(?_-1)_(66+1_67-1)del r.0? p.0?
-/. - c.27C>T r.(?) p.(Ile9=)
-/. - c.27C>T r.(?) p.(Ile9=)
-?/. - c.33G>C r.(?) p.(Ser11=)
-?/. - c.42G>A r.(?) p.(Lys14=)
+/. 1 c.50T>C r.(?) p.(Leu17Pro)
-/. - c.66+10C>T r.(=) p.(=)
-?/. - c.66+10C>T r.(=) p.(=)
-/. - c.66+10C>T r.(=) p.(=)
-/. - c.67-7T>C r.(=) p.(=)
-/. - c.67-7T>C r.(=) p.(=)
-/. - c.67-7T>C r.(=) p.(=)
-/. - c.67-7T>C r.(=) p.(=)
-?/. - c.102G>A r.(?) p.(Thr34=)
?/. - c.112G>A r.(?) p.(Val38Ile)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. 2 c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. 2 c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. - c.122T>C r.(?) p.(Ile41Thr)
+/. 2 c.143A>G r.(?) p.(Asp48Gly)
+/. 2 c.157G>T r.(?) p.(Asp53Tyr)
-/. - c.165+100A>T r.(=) p.(=)
-?/. - c.173A>G r.(?) p.(Tyr58Cys)
?/. - c.173A>G r.(?) p.(Tyr58Cys)
+?/. - c.281G>A r.(?) p.(Gly94Asp)
+/. 4 c.294del r.(?) p.(Phe98Leufs*5)
-/. - c.446+9G>A r.(=) p.(=)
-?/. - c.446+9G>A r.(=) p.(=)
-?/. - c.446+9G>A r.(=) p.(=)
-?/. - c.447-17dup r.(=) p.(=)
-/. - c.447-17dup r.(=) p.(=)
-/. - c.447-16G>T r.(=) p.(=)
-?/. - c.447-16G>T r.(=) p.(=)
-/. - c.447-4_447-3dup r.spl? p.?
-?/. - c.447-4_447-3dup r.spl? p.?
-?/. - c.447-3del r.spl? p.?
-/. - c.447-3dup r.spl? p.?
-/. - c.447-3dup r.spl? p.?
-/. - c.447-3dup r.spl? p.?
-/. - c.447-3dup r.spl? p.?
-/. - c.447-3dup r.spl? p.?
-/. - c.447-3dup r.spl? p.?
+/. - c.547C>T r.(?) p.(Arg183*)
+/. 4 c.547C>T r.(?) p.(Arg183*)
-?/. - c.548G>A r.(?) p.(Arg183Gln)
+/. - c.592C>T r.(?) p.(Gln198Ter)
-/. - c.647-18C>A r.(=) p.(=)
-/. - c.647-18C>A r.(=) p.(=)
-/. - c.647-18C>A r.(=) p.(=)
-/. - c.647-18C>A r.(=) p.(=)
-/. - c.647-18C>A r.(=) p.(=)
-/. - c.647-18C>A r.(=) p.(=)
?/. - c.759del r.(?) p.(Phe254SerfsTer8)
+/. 6 c.759del r.(?) p.(Phe254Serfs*8)
+/. 6 c.831_838del r.(?) p.(Lys278Trpfs*6)
+/. - c.831_838del r.(?) p.(Lys278Trpfs*6)
-?/. - c.834A>T r.(?) p.(Lys278Asn)
-?/. - c.834A>T r.(?) p.(Lys278Asn)
+?/. 8 c.837dup r.(?) p.(Ala280Cysfs*7)
+?/. - c.863G>T r.(?) p.(Gly288Val)
?/. - c.877-54_877-50del r.(=) p.(=)
+/. 7 c.904G>A r.(?) p.(Glu302Lys)
?/. - c.919G>A r.(?) p.(Asp307Asn)
-?/. - c.1040-4T>C r.spl? p.?
+/. 8 c.1043_1050del r.(?) p.(Asp348Glyfs*12)
-?/. - c.1090A>T r.(?) p.(Met364Leu)
-/. - c.1090A>T r.(?) p.(Met364Leu)
-/. - c.1090A>T r.(?) p.(Met364Leu)
-/. - c.1090A>T r.(?) p.(Met364Leu)
-/. - c.1138-22A>G r.(=) p.(=)
+/. 9 c.1141C>T r.(?) p.(Arg381*)
+/. - c.1141C>T r.(?) p.(Arg381*)
+/. 9 c.1147_1148delinsT r.(?) p.(Lys383*)
+/. 9 c.1162A>G r.(?) p.(Arg388Gly)
?/. - c.1207C>A r.(?) p.(Gln403Lys)
+/. 10 c.1207C>T r.(?) p.(Gln403*)
+/. 10 c.1231A>G r.(?) p.(Ile411Val)
+/. 11 c.1373dup r.(?) p.(Leu458Phefs*5)
?/. - c.1376G>A r.(?) p.(Arg459Gln)
?/. - c.1388+8T>A r.(=) p.(=)
-?/. - c.1434+9A>G r.(=) p.(=)
-/. - c.1435-90_1435-79dup r.(=) p.(=)
+?/. - c.1507T>C r.(?) p.(Cys503Arg)
?/. - c.1571C>G r.(?) p.(Thr524Arg)
-?/. - c.1584-8T>A r.(=) p.(=)
+/. 14 c.1666dup r.(?) p.(Thr556Asnfs*21)
+/. 14 c.1675A>T r.(?) p.(Lys559*)
+?/. - c.1808_1811dup r.(?) p.(Pro605Glufs*45)
-?/. - c.1863C>A r.(?) p.(Thr621=)
?/. - c.1928T>A r.(?) p.(Leu643Ter)
+/. 16 c.1940A>G r.(?) p.(Tyr647Cys)
-/. - c.1948+3A>G r.spl? p.?
-/. - c.1948+3A>G r.spl? p.?
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