Varaico: Literature-Extracted Genetic Variants

Gene:TRNT1
Variant:p.L13fs

TRNT1

166 papers

RefSeq Summary

The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the co...

Pfam Domains

PolyA_polaa 59–182UCSCPoly A polymerase head domain
PolyA_pol_RNAbdaa 215–271UCSCProbable RNA and SrmB- binding site of polymerase A

Gene Aliases

HGNC Name

tRNA nucleotidyl transferase 1

HGNC Alias Symbols

MtCCA; CGI-47; CCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182916.3
p.L13fs
c.37_38fs
Surrounding Variants
1 paper
NM_182916.3
p.L13fs
c.37_38fs
1 paper
NM_182916.3
p.N14insFs
c.42dupC
1 paper
NM_182916.3
p.N14S
c.41A>G
3 papers
NM_182916.3
p.P11_R16delFs
c.33_46del14
1 paper
NM_182916.3
p.R15G
c.43C>G
1 paper
NM_182916.3
p.R15C
c.43C>T
1 paper
NM_182916.3
p.R16insFs
c.47dupG
1 paper
NM_182916.3
p.R16M
c.47G>T
1 paper
NM_182916.3
p.L5L
c.15G>A
2 papers
NM_182916.3
p.L5_V12del8
c.13_35del24
1 paper
NM_182916.3
p.C4R
c.10T>C
1 paper
NM_182916.3
p.R3insFs
c.8_9insG
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