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

5 papers

NM_017755.6

p.K190M

c.569A>T

Surrounding Variants

1 paper

NM_017755.6

p.P187delFs

c.560delG

1 paper

NM_017755.6

p.P187fs

c.559_560fs

1 paper

NM_017755.6

p.I195V

c.583A>G

1 paper

NM_017755.6

p.M183fs

c.547_548fs

1 paper

NM_017755.6

p.D182_M183insFs

c.546_547insCT

1 paper

NM_017755.6

p.L198P

c.593T>C

7 papers

NM_017755.6

p.K179_I180Splc

c.538-1G>C

2 papers

NM_017755.6

p.K179_I180Splc

c.538-11T>G

1 paper

NM_017755.6

p.K179_I180Splc

c.537+242A>G

1 paper

NM_017755.6

p.K179K

c.537G>A

1 paper

NM_017755.6

p.H177Y

c.529C>T

1 paper

NM_017755.6

p.E208Splc

c.623-433G>T