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.T337S

c.1009A>T

Surrounding Variants

2 papers

NM_182916.3

p.T337delFs

c.1010delC

2 papers

NM_182916.3

p.T337fs

c.1009_1010fs

1 paper

NM_182916.3

p.D332N

c.994G>A

1 paper

NM_182916.3

p.D332H

c.994G>C

1 paper

NM_182916.3

p.L343V

c.1027T>G

1 paper

NM_182916.3

p.V327fs

c.979_980fs

1 paper

NM_182916.3

p.V327delFs

c.979delG

12 papers

NM_182916.3

p.I326T

c.977T>C

1 paper

NM_182916.3

p.I326V

c.976A>G

1 paper

NM_182916.3

p.D348V

c.1043A>T

1 paper

NM_182916.3

p.L324_R330del7

c.970_989del21

1 paper

NM_182916.3

p.N321insFs

c.961_962insC