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.D143_W144delFs

c.428_431del4

Surrounding Variants

1 paper

NM_182916.3

p.D143_W144insTT

c.427_431ins6

1 paper

NM_182916.3

p.D143fs

c.427_428fs

1 paper

NM_182916.3

p.F140_T142delFs

c.420_426del7

3 papers

NM_182916.3

p.A136G

c.407C>G

1 paper

NM_182916.3

p.A148T

c.442G>A

1 paper

NM_182916.3

p.A148P

c.442G>C

14 papers

NM_182916.3

p.A148V

c.443C>T

1 paper

NM_182916.3

p.R150C

c.448C>T

1 paper

NM_182916.3

p.D132Y

c.394G>T

14 papers

NM_182916.3

p.T154I

c.461C>T

1 paper

NM_182916.3

p.I155L

c.463A>C

13 papers

NM_182916.3

p.D128G

c.383A>G