Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.E281*

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.E281*
c.841G>T
Surrounding Variants
4 papers
NM_005584.5
p.E281fs
c.841_842fs
4 papers
NM_005584.5
p.Y280*
c.840C>G
4 papers
NM_005584.5
p.Y280*
c.840C>A
3 papers
NM_005584.5
p.E281delFs
c.841delC
2 papers
NM_005584.5
p.E281fs
c.841_842fs
2 papers
NM_005584.5
p.S279_P286del8
c.835_857del24
4 papers
NM_005584.5
p.R287fs
c.859_860fs
3 papers
NM_005584.5
p.R287delFs
c.859delG
2 papers
NM_005584.5
p.S289L
c.866C>T
1 paper
NM_005584.5
p.G266_Y272del0
c.797_814del18
1 paper
NM_005584.5
p.P265R
c.794C>G
1 paper
NM_005584.5
p.P265Q
c.794C>A
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