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Results for the Protein: NP_116575
323510681

regulator of telomere elongation helicase 1 isoform 2 [Homo sapiens]
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DinG - COG1199
DEXDc2 - smart00488
- smart00489
DEAD_2 - pfam06733
- smart00492
HELICc2 - smart00491


RefSeq Protein: NP_116575
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
smart004892.3e-599315
DEXDc2smart004882.3e-599315
DEAD_2pfam067334.9e-79111296
HELICc2smart004912.1e-73587741
smart004921.1e-19587741

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs115303435 Polymorphismp.ALA1083THRN/A
dbSNPrs3848668 Polymorphismp.ASN124SERN/A
dbSNPrs61753459 Polymorphismp.ASP728GLUN/A
dbSNPrs3208008 Polymorphismp.GLN1066HISN/A
dbSNPrs61736614 Polymorphismp.GLU965ASPN/A



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