Transcript #00008131 (NM_144966.5, FREM1 gene)

Transcript name transcript variant 1
Gene name FREM1 (FRAS1 related extracellular matrix 1)
Chromosome 9
Transcript - NCBI ID NM_144966.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_659403.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

245 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-268+2T>A r.spl? p.?
-/. - c.-135G>C r.(?) p.(=)
-?/. - c.4A>T r.(?) p.(Asn2Tyr)
+/. - c.227_234+2del r.spl? p.?
+/. - c.234+4_234+6del r.spl? p.?
-/. - c.234+89T>A r.(=) p.(=)
-?/. - c.279C>T r.(?) p.(His93=)
-?/. - c.329+10A>C r.(=) p.(=)
-/. - c.329+84G>A r.(=) p.(=)
+?/. - c.348_351del r.(?) p.(Phe117Ter)
-?/. - c.424C>T r.(?) p.(Leu142=)
-/. - c.456A>G r.(?) p.(Gln152=)
-?/. - c.516C>T r.(=) p.(=)
-/. - c.516C>T r.(?) p.(Thr172=)
-?/. - c.516C>T r.(=) p.(=)
-?/. - c.578C>G r.(?) p.(Pro193Arg)
-?/. - c.635T>G r.(?) p.(Leu212Arg)
-/. - c.639A>G r.(?) p.(Arg213=)
-?/. - c.789A>C r.(?) p.(Gln263His)
?/. - c.795C>A r.(?) p.(Asp265Glu)
-/. - c.828+33G>C r.(=) p.(=)
-/. - c.829-177A>G r.(=) p.(=)
-/. - c.829-98C>T r.(=) p.(=)
-/. - c.829-12A>G r.(=) p.(=)
-/. - c.829-12A>G r.(=) p.(=)
-/. - c.840G>A r.(?) p.(Ala280=)
?/. - c.854A>G r.(?) p.(Tyr285Cys)
?/. - c.922G>C r.(?) p.(Asp308His)
-?/. - c.1016C>G r.(?) p.(Ala339Gly)
?/. - c.1072T>G r.(?) p.(Phe358Val)
?/. - c.1130A>C r.(?) p.(His377Pro)
-/. - c.1152+193G>A r.(=) p.(=)
-?/. - c.1153-157A>G r.(=) p.(=)
-/. - c.1153-144A>T r.(=) p.(=)
-/. - c.1153-121T>C r.(=) p.(=)
-/. - c.1153-102G>A r.(=) p.(=)
-/. - c.1153-31G>A r.(=) p.(=)
-/. - c.1262-33G>C r.(=) p.(=)
+/. - c.1288C>T r.(?) p.(Arg430Ter)
?/. - c.1289G>A r.(?) p.(Arg430Gln)
-/. - c.1315G>C r.(?) p.(Val439Leu)
-/. - c.1315G>C r.(?) p.(Val439Leu)
?/. - c.1325A>G r.(?) p.(Asn442Ser)
-?/. - c.1329C>T r.(?) p.(Asp443=)
?/. - c.1345C>T r.(?) p.(Arg449Trp)
?/. - c.1357G>A r.(?) p.(Val453Ile)
-/. - c.1394G>C r.(?) p.(Gly465Ala)
-/. - c.1464C>T r.(?) p.(Ser488=)
?/. - c.1465G>A r.(?) p.(Asp489Asn)
-/. - c.1492C>T r.(?) p.(Arg498Trp)
+/? ? c.1493G>A r.(?) p.(Arg498Gln)
?/. - c.1493G>A r.(?) p.(Arg498Gln)
?/. - c.1493G>A r.(?) p.(Arg498Gln)
?/. - c.1493G>A r.(?) p.(Arg498Gln)
-?/. - c.1495A>G r.(?) p.(Ile499Val)
-/. - c.1495A>G r.(?) p.(Ile499Val)
-?/. - c.1495A>G r.(?) p.(Ile499Val)
-?/. - c.1520G>A r.(?) p.(Arg507His)
?/. - c.1637G>A r.(?) p.(Arg546Gln)
-?/. - c.1695A>C r.(?) p.(Pro565=)
?/. - c.1723G>A r.(?) p.(Gly575Arg)
-/. - c.1738+47A>G r.(=) p.(=)
-/. - c.1739-46T>C r.(=) p.(=)
-/. - c.1791T>C r.(?) p.(Tyr597=)
-/. - c.1881+58G>C r.(=) p.(=)
+/? ? c.1945C>T r.(?) p.(Arg649Trp)
?/. - c.1945C>T r.(?) p.(Arg649Trp)
?/. - c.1949A>C r.(?) p.(His650Pro)
?/. - c.1953G>T r.(?) p.(Leu651Phe)
?/. - c.2042C>T r.(?) p.(Thr681Ile)
?/. - c.2042C>T r.(?) p.(Thr681Ile)
?/. - c.2044A>G r.(?) p.(Ile682Val)
-?/. - c.2061T>C r.(?) p.(Phe687=)
-/. - c.2073C>T r.(?) p.(Ser691=)
-/. - c.2078+83_2078+84del r.(=) p.(=)
-/. - c.2079-173T>C r.(=) p.(=)
-?/. - c.2079-4T>G r.spl? p.?
-?/. - c.2083T>C r.(?) p.(Leu695=)
+/. - c.2097_2100del r.(?) p.(Lys699AsnfsTer10)
-/. - c.2104A>G r.(?) p.(Met702Val)
?/. - c.2212C>G r.(?) p.(Gln738Glu)
?/. - c.2270A>G r.(?) p.(His757Arg)
-?/. - c.2277T>C r.(?) p.(Gly759=)
-/. - c.2338-75C>T r.(=) p.(=)
-/. - c.2408C>A r.(?) p.(Ser803Tyr)
-/. - c.2408C>A r.(?) p.(Ser803Tyr)
-?/. - c.2420C>G r.(?) p.(Thr807Ser)
?/. - c.2459C>T r.(?) p.(Pro820Leu)
?/. - c.2459C>T r.(?) p.(Pro820Leu)
?/. - c.2461C>T r.(?) p.(Leu821=)
-/. - c.2547-199G>A r.(=) p.(=)
-/. - c.2547-173G>A r.(=) p.(=)
-/. - c.2587C>G r.(?) p.(Leu863Val)
-/. - c.2641-10C>T r.(=) p.(=)
-/. - c.2714G>A r.(?) p.(Gly905Glu)
+?/. - c.2739_2747delinsAATTTTCT r.(?) p.(Tyr913Ter)
-?/. - c.2764G>A r.(?) p.(Asp922Asn)
-?/. - c.2796C>T r.(?) p.(Arg932=)
-?/. - c.2796C>T r.(?) p.(Arg932=)
?/. - c.2875G>A r.(?) p.(Val959Met)
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