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.E337G

c.1010A>G

Surrounding Variants

2 papers

NM_017755.6

p.L335*

c.1004T>G

2 papers

NM_017755.6

p.L335*

c.1004T>A

1 paper

NM_017755.6

p.S339delFs

c.1015delT

1 paper

NM_017755.6

p.S339fs

c.1015_1016fs

8 papers

NM_017755.6

p.E340delFs

c.1020delT

NM_001193455.2

p.E305delFs

c.915delT

1 paper

NM_017755.6

p.C321Y

c.962G>A

1 paper

NM_017755.6

p.Y318S

c.953A>C

1 paper

NM_017755.6

p.G341Splc

c.1021+49T>A

1 paper

NM_017755.6

p.G313V

c.938G>T

1 paper

NM_017755.6

p.E312K

c.934G>A

3 papers

NM_017755.6

p.R305delFs

c.915delG

1 paper

NM_017755.6

p.L300Q

c.899T>A