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

1 paper

NM_182916.3

p.V181fs

c.541_542fs

Surrounding Variants

1 paper

NM_182916.3

p.K180_V181delFs

c.540_543del4

1 paper

NM_182916.3

p.K180Q

c.538A>C

1 paper

NM_182916.3

p.N178D

c.532A>G

1 paper

NM_182916.3

p.G185G

c.555A>C

6 papers

NM_182916.3

p.L176*

c.527T>A

6 papers

NM_182916.3

p.L176*

c.527T>G

5 papers

NM_182916.3

p.D175delFs

c.525delT

9 papers

NM_182916.3

p.Y173F

c.518A>T

1 paper

NM_182916.3

p.Q189Q

c.567G>A

1 paper

NM_182916.3

p.R190T

c.569G>C

14 papers

NM_182916.3

p.R190I

c.569G>T

2 papers

NM_182916.3

p.Q192*

c.574C>T