Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.F116L

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
2 papers
NM_005584.5
p.F116L
c.348C>G
Surrounding Variants
2 papers
NM_005584.5
p.F116L
c.348C>A
2 papers
NM_005584.5
p.F116L
c.346T>C
1 paper
NM_005584.5
p.I128N
c.383T>A
1 paper
NM_005584.5
p.A98A
c.294G>T
1 paper
NM_005584.5
p.C97fs
c.289_290fs
4 papers
NM_005584.5
p.S93_G96delFs
c.279_286del8
1 paper
NM_005584.5
p.P95fs
c.283_284fs
1 paper
NM_005584.5
p.R146L
c.437G>T
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.M151T
c.452T>C
1 paper
NM_005584.5
p.L80F
c.238C>T
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