Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL1
Variant:p.T112S

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.T112S
c.334A>T
Surrounding Variants
1 paper
NM_001378026.1
p.T112S
c.335C>G
1 paper
NM_001378026.1
p.V107V
c.321G>T
1 paper
NM_001378026.1
p.N117D
c.349A>G
1 paper
NM_001378026.1
p.K135delFs
c.405delA
1 paper
NM_001378026.1
p.E136fs
c.406_407fs
3 papers
NM_001378026.1
p.E136fs
c.406_407fs
1 paper
NM_001378026.1
p.C144G
c.430T>G
1 paper
NM_001378026.1
p.E83Q
c.247G>C
1 paper
NM_001378026.1
p.Q76*
c.226C>T
1 paper
NM_001378026.1
p.G55delFs
c.165delA
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