Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL1
Variant:p.T2492A

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.T2492A
c.7474A>G
Surrounding Variants
1 paper
NM_001378026.1
p.L2441L
c.7323G>A
2 papers
NM_001378026.1
p.I2348V
c.7042A>G
1 paper
NM_001378026.1
p.S2612F
c.7835C>T
1 paper
NM_001378026.1
p.L2643P
c.7928T>C
1 paper
NM_001378026.1
p.L2331insFs
c.6992_6993insA
3 papers
NM_001378026.1
p.T2330A
c.6988A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."