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

4 papers

NM_182916.3

p.E121K

c.361G>A

Surrounding Variants

1 paper

NM_182916.3

p.F120L

c.360T>A

3 papers

NM_182916.3

p.E121D

c.363G>C

4 papers

NM_182916.3

p.E121D

c.363G>T

1 paper

NM_182916.3

p.I122T

c.365T>C

1 paper

NM_182916.3

p.T123S

c.368C>G

1 paper

NM_182916.3

p.T123I

c.368C>T

1 paper

NM_182916.3

p.E117K

c.349G>A

1 paper

NM_182916.3

p.L115L

c.345T>C

1 paper

NM_182916.3

p.D128_T130del3

c.382_389del9

1 paper

NM_182916.3

p.D128N

c.382G>A

13 papers

NM_182916.3

p.D128G

c.383A>G

1 paper

NM_182916.3

p.D132Y

c.394G>T