Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL1
Variant:p.K17*

NBEAL1

59 papers

Pfam Domains

DUF4704aa 854–1291UCSCNeurobeachin/BDCP, DUF4704 alpha solenoid region
DUF4800aa 1580–1833UCSCDomain of unknown function (DUF4800)
PH_BEACHaa 1894–1980UCSCPH domain associated with Beige/BEACH
Beachaa 2005–2284UCSCBeige/BEACH domain
NBCH_WD40aa 2343–2664UCSCNeurobeachin beta propeller domain

Gene Aliases

HGNC Name

neurobeachin like 1

HGNC Previous Symbols

ALS2CR17; ALS2CR16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378026.1
p.K17*
c.49A>T
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