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.S95L

c.284C>T

Surrounding Variants

1 paper

NM_182916.3

p.S95W

c.284C>G

1 paper

NM_182916.3

p.M92V

c.274A>G

14 papers

NM_182916.3

p.R99W

c.295C>T

3 papers

NM_182916.3

p.I101T

c.302T>C

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.R104_G105delFs

c.312_315del4

1 paper

NM_182916.3

p.H108_T110delFs

c.324_330del7

1 paper

NM_182916.3

p.T82I

c.245C>T

7 papers

NM_182916.3

p.T110I

c.329C>T

1 paper

NM_182916.3

p.I111V

c.331A>G

1 paper

NM_182916.3

p.I111T

c.332T>C