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

12 papers

NM_182916.3

p.D352_S353Splc

c.1057-7C>G

Surrounding Variants

1 paper

NM_182916.3

p.T360A

c.1078A>G

1 paper

NM_182916.3

p.R361C

c.1081C>T

1 paper

NM_182916.3

p.V362A

c.1085T>C

2 papers

NM_182916.3

p.E364D

c.1092A>C

3 papers

NM_182916.3

p.E364D

c.1092A>T

1 paper

NM_182916.3

p.H372L

c.1115A>T

5 papers

NM_182916.3

p.W381fs

c.1141_1142fs

6 papers

NM_182916.3

p.W381insFs

c.1142_1143ins4

1 paper

NM_182916.3

p.S382S

c.1146C>G

1 paper

NM_182916.3

p.P387L

c.1160C>T

3 papers

NM_182916.3

p.G390S

c.1168G>A

1 paper

NM_182916.3

p.R394K

c.1181G>A