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

1 paper

NM_017755.6

p.K84R

c.251A>G

Surrounding Variants

1 paper

NM_017755.6

p.S85N

c.254G>A

1 paper

NM_017755.6

p.S85Splc

c.254+1G>A

1 paper

NM_017755.6

p.G82V

c.245G>T

1 paper

NM_017755.6

p.G82A

c.245G>C

1 paper

NM_017755.6

p.L74L

c.222C>T

1 paper

NM_017755.6

p.P73T

c.217C>A

1 paper

NM_017755.6

p.F66C

c.197T>G

1 paper

NM_017755.6

p.L55P

c.164T>C

1 paper

NM_017755.6

p.Q53*

c.157C>T

1 paper

NM_017755.6

p.Y38C

c.113A>G

1 paper

NM_017755.6

p.A32_G33Splc

c.97-1G>C

1 paper

NM_017755.6

p.E17E

c.51G>A