Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.K175N

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
1 paper
NM_005584.5
p.K175N
c.525A>T
Surrounding Variants
1 paper
NM_005584.5
p.K175N
c.525A>C
1 paper
NM_005584.5
p.C176F
c.527G>T
2 papers
NM_005584.5
p.T177A
c.529A>G
2 papers
NM_005584.5
p.I170M
c.510C>G
1 paper
NM_005584.5
p.R165K
c.494G>A
1 paper
NM_005584.5
p.P188Q
c.563C>A
1 paper
NM_005584.5
p.P190fs
c.568_569fs
1 paper
NM_005584.5
p.I192I
c.576C>T
1 paper
NM_005584.5
p.M151T
c.452T>C
1 paper
NM_005584.5
p.K150N
c.450G>T
1 paper
NM_005584.5
p.K150N
c.450G>C
1 paper
NM_005584.5
p.R146L
c.437G>T
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."