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.L428R

c.1283T>G

Surrounding Variants

1 paper

NM_182916.3

p.L428_I431del4

c.1282_1292del12

1 paper

NM_182916.3

p.I431T

c.1292T>C

1 paper

NM_182916.3

p.I431insFs

c.1293dupA

1 paper

NM_182916.3

p.K433fs

c.1297_1298fs

1 paper

NM_182916.3

p.T434I

c.1301C>T

1 paper

NM_182916.3

p.Y420_E426del7

c.1258_1277del21

1 paper

NM_182916.3

p.S418insFs

c.1253_1254insA

7 papers

NM_182916.3

p.S418fs

c.1252_1253fs

5 papers

NM_182916.3

p.S418fs

c.1252_1253fs

1 paper

NM_182916.3

p.K417T

c.1250A>C

15 papers

NM_182916.3

p.K416E

c.1246A>G

7 papers

NM_182916.3

p.S418insFs

c.1252_1253insA