Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.Q233P

MAB21L1

41 papers

RefSeq Summary

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repe...

Pfam Domains

Mab-21aa 62–242UCSCMab-21 protein nucleotidyltransferase domain
Mab-21_Caa 246–344UCSCMab-21 protein HhH/H2TH-like domain

Gene Aliases

HGNC Name

mab-21 like 1

HGNC Alias Symbol

CAGR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_005584.5
p.Q233P
c.698A>C
Surrounding Variants
1 paper
NM_005584.5
p.A235V
c.704C>T
1 paper
NM_005584.5
p.A229T
c.685G>A
1 paper
NM_005584.5
p.R240*
c.718A>T
1 paper
NM_005584.5
p.G244R
c.730G>C
1 paper
NM_005584.5
p.G244R
c.730G>A
2 papers
NM_005584.5
p.G245insFs
c.735dupC
6 papers
NM_005584.5
p.C246fs
c.736_737fs
4 papers
NM_005584.5
p.G220R
c.658G>C
1 paper
NM_005584.5
p.G220S
c.658G>A
1 paper
NM_005584.5
p.G220fs
c.658_659fs
1 paper
NM_005584.5
p.E214_A219delFs
c.640_656del17
1 paper
NM_005584.5
p.K248R
c.743A>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."