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

1–12 of 146 variants

13 papers

NM_017755.6

p.G679R

c.2035G>A

11 papers

NM_017755.6

p.G679R

c.2035G>C

10 papers

NM_017755.6

p.L91I

c.271C>A

7 papers

NM_017755.6

p.K179_I180Splc

c.538-1G>C

7 papers

NM_017755.6

p.E340delFs

c.1020delT

6 papers

NM_017755.6

p.Q227*

c.679C>T

5 papers

NM_017755.6

p.K190M

c.569A>T

5 papers

NM_017755.6

p.V715I

c.2143G>A

4 papers

NM_017755.6

p.G341fs

c.1021_1022fs

4 papers

NM_017755.6

p.Q372*

c.1114C>T

3 papers

NM_017755.6

p.R305delFs

c.915delG

3 papers

NM_017755.6

p.K365_V366Splc

c.1095+1G>A