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

5 papers

NM_182916.3

p.G405R

c.1213G>C

Surrounding Variants

7 papers

NM_182916.3

p.G405R

c.1213G>A

1 paper

NM_182916.3

p.A406V

c.1217C>T

1 paper

NM_182916.3

p.S400L

c.1199C>T

1 paper

NM_182916.3

p.L411F

c.1233G>T

7 papers

NM_182916.3

p.R412*

c.1234C>T

1 paper

NM_182916.3

p.Q414*

c.1240C>T

1 paper

NM_182916.3

p.R394K

c.1181G>A

7 papers

NM_182916.3

p.S418insFs

c.1252_1253insA

2 papers

NM_182916.3

p.K416delFs

c.1246delA

15 papers

NM_182916.3

p.K416E

c.1246A>G

1 paper

NM_182916.3

p.K417T

c.1250A>C

7 papers

NM_182916.3

p.S418fs

c.1252_1253fs