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.D731D

c.2193C>T

Surrounding Variants

2 papers

NM_017755.6

p.V732M

c.2194G>A

1 paper

NM_017755.6

p.E734Q

c.2200G>C

2 papers

NM_017755.6

p.T725N

c.2174C>A

5 papers

NM_017755.6

p.V715I

c.2143G>A

1 paper

NM_001193455.2

p.G679R

c.2035G>C

1 paper

NM_001193455.2

p.G679R

c.2035G>A

1 paper

NM_017755.6

p.K710N

c.2130G>T

1 paper

NM_017755.6

p.K710N

c.2130G>C

1 paper

NM_017755.6

p.V706fs

c.2116_2117fs

1 paper

NM_017755.6

p.C758R

c.2272T>C

2 papers

NM_017755.6

p.P760Q

c.2279C>A

1 paper

NM_017755.6

p.P760P

c.2280G>A