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

10 papers

NM_182916.3

p.T42_E43del1

c.126_128delAGA

Surrounding Variants

1 paper

NM_182916.3

p.G44A

c.131G>C

1 paper

NM_182916.3

p.L40F

c.118C>T

1 paper

NM_182916.3

p.L45L

c.133C>T

1 paper

NM_182916.3

p.K46E

c.136A>G

1 paper

NM_182916.3

p.Q38L

c.113A>T

1 paper

NM_182916.3

p.E36D

c.108A>C

1 paper

NM_182916.3

p.E36D

c.108A>T

1 paper

NM_182916.3

p.L48insFs

c.143dupT

1 paper

NM_182916.3

p.L48insFs

c.143_144insTT

1 paper

NM_182916.3

p.E36V

c.107A>T

1 paper

NM_182916.3

p.T49fs

c.145_146fs

1 paper

NM_182916.3

p.T49I

c.146C>T