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

1–12 of 225 variants

20 papers

NM_182916.3

p.I223T

c.668T>C

15 papers

NM_182916.3

p.K416E

c.1246A>G

14 papers

NM_182916.3

p.R99W

c.295C>T

14 papers

NM_182916.3

p.A148V

c.443C>T

14 papers

NM_182916.3

p.T154I

c.461C>T

14 papers

NM_182916.3

p.L166S

c.497T>C

14 papers

NM_182916.3

p.R190I

c.569G>T

13 papers

NM_182916.3

p.D128G

c.383A>G

12 papers

NM_182916.3

p.I326T

c.977T>C

12 papers

NM_182916.3

p.D352_S353Splc

c.1057-7C>G

11 papers

NM_182916.3

p.H215R

c.644A>G

10 papers

NM_182916.3

p.T42_E43del1

c.126_128delAGA