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.T82I

c.245C>T

Surrounding Variants

1 paper

NM_182916.3

p.D77E

c.231T>A

1 paper

NM_182916.3

p.D77E

c.231T>G

2 papers

NM_182916.3

p.D77V

c.230A>T

1 paper

NM_182916.3

p.D77N

c.229G>A

1 paper

NM_182916.3

p.D77Y

c.229G>T

1 paper

NM_182916.3

p.Q88fs

c.262_263fs

1 paper

NM_182916.3

p.Q88_M89delFs

c.263_266del4

1 paper

NM_182916.3

p.P75L

c.224C>T

1 paper

NM_182916.3

p.P75S

c.223C>T

9 papers

NM_182916.3

p.V73insFs

c.218_219ins22

2 papers

NM_182916.3

p.V73fs

c.217_218fs

1 paper

NM_182916.3

p.M92V

c.274A>G