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.H86fs

c.256_257fs

Surrounding Variants

1 paper

NM_017755.6

p.E89K

c.265G>A

1 paper

NM_017755.6

p.L91F

c.271C>T

10 papers

NM_017755.6

p.L91I

c.271C>A

1 paper

NM_017755.6

p.E113K

c.337G>A

1 paper

NM_017755.6

p.L118Q

c.353T>A

1 paper

NM_017755.6

p.W120Splc

c.359+1G>A

1 paper

NM_017755.6

p.S85Splc

c.255-230G>T

1 paper

NM_017755.6

p.S85Splc

c.254+1G>A

1 paper

NM_017755.6

p.S85N

c.254G>A

1 paper

NM_017755.6

p.K84R

c.251A>G

1 paper

NM_017755.6

p.G82V

c.245G>T

1 paper

NM_017755.6

p.G82A

c.245G>C