Varaico: Literature-Extracted Genetic Variants

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.I233T

c.698T>C

Surrounding Variants

1 paper

NM_182916.3

p.I233K

c.698T>A

1 paper

NM_182916.3

p.I233R

c.698T>G

1 paper

NM_182916.3

p.G235*

c.703G>T

1 paper

NM_182916.3

p.A231G

c.692C>G

1 paper

NM_182916.3

p.A231V

c.692C>T

1 paper

NM_182916.3

p.E236K

c.706G>A

1 paper

NM_182916.3

p.G229A

c.686G>C

1 paper

NM_182916.3

p.L242fs

c.724_725fs

1 paper

NM_182916.3

p.K244_I245delFs

c.732_733delAA

20 papers

NM_182916.3

p.I223T

c.668T>C

1 paper

NM_182916.3

p.I223V

c.667A>G

1 paper

NM_182916.3

p.N249S

c.746A>G