Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.F52C

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
4 papers
NM_005584.5
p.F52C
c.155T>G
Surrounding Variants
5 papers
NM_005584.5
p.F52L
c.154T>C
5 papers
NM_005584.5
p.F52L
c.156C>G
5 papers
NM_005584.5
p.F52L
c.156C>A
1 paper
NM_005584.5
p.F52delFs
c.155delA
6 papers
NM_005584.5
p.R51L
c.152G>T
3 papers
NM_005584.5
p.R51P
c.152G>C
6 papers
NM_005584.5
p.R51Q
c.152G>A
1 paper
NM_005584.5
p.R51W
c.151C>T
1 paper
NM_005584.5
p.R51G
c.151C>G
4 papers
NM_005584.5
p.E49K
c.145G>A
1 paper
NM_005584.5
p.K43R
c.128A>G
4 papers
NM_005584.5
p.R62C
c.184C>T
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