Varaico: Literature-Extracted Genetic Variants

NSUN2

139 papers

RefSeq Summary

This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary...

Pfam Domains

Methyltr_RsmB-Faa 169–364UCSC16S rRNA methyltransferase RsmB/F

Pre-PUA_NSUN2aa 519–616UCSCNSUN2 Pre-PUA domain

PUA_NSUN2aa 618–703UCSCNSUN2 PUA domain

Gene Aliases

HGNC Name

NOP2/Sun RNA methyltransferase 2

HGNC Previous Symbol

MRT5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017755.6

p.N240H

c.718A>C

Surrounding Variants

1 paper

NM_017755.6

p.V239D

c.716T>A

1 paper

NM_017755.6

p.S244P

c.730T>C

1 paper

NM_017755.6

p.S244C

c.731C>G

1 paper

NM_017755.6

p.I246V

c.736A>G

1 paper

NM_017755.6

p.L231L

c.693G>A

1 paper

NM_017755.6

p.Q227R

c.680A>G

6 papers

NM_017755.6

p.Q227*

c.679C>T

1 paper

NM_017755.6

p.E258Q

c.772G>C

1 paper

NM_017755.6

p.L260P

c.779T>C

1 paper

NM_017755.6

p.D215fs

c.643_644fs

1 paper

NM_017755.6

p.N214insFs

c.642dupT

1 paper

NM_017755.6

p.D268Y

c.802G>T