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

14 papers

NM_182916.3

p.L166S

c.497T>C

Surrounding Variants

1 paper

NM_182916.3

p.L166_Y169del0

c.498_506del9

5 papers

NM_182916.3

p.F167fs

c.499_500fs

4 papers

NM_182916.3

p.F167fs

c.499_500fs

1 paper

NM_182916.3

p.T165S

c.494C>G

5 papers

NM_182916.3

p.T165_L166delFs

c.495_498del4

1 paper

NM_182916.3

p.T165S

c.493A>T

1 paper

NM_182916.3

p.D168A

c.503A>C

8 papers

NM_182916.3

p.D163V

c.488A>T

1 paper

NM_182916.3

p.F170insFs

c.510dupT

9 papers

NM_182916.3

p.Y173F

c.518A>T

5 papers

NM_182916.3

p.D175delFs

c.525delT

6 papers

NM_182916.3

p.L176*

c.527T>A