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

4 papers

NM_017755.6

p.Q372*

c.1114C>T

Surrounding Variants

1 paper

NM_017755.6

p.W377*

c.1130G>A

1 paper

NM_017755.6

p.W377*

c.1131G>A

1 paper

NM_017755.6

p.P381fs

c.1141_1142fs

1 paper

NM_017755.6

p.P381delFs

c.1142delG

2 papers

NM_017755.6

p.R389*

c.1165C>T

1 paper

NM_017755.6

p.R389Q

c.1166G>A

1 paper

NM_017755.6

p.T391fs

c.1171_1172fs

1 paper

NM_017755.6

p.T391_M392delFs

c.1171_1175del5

1 paper

NM_017755.6

p.F393F

c.1179C>T

3 papers

NM_017755.6

p.K365_V366Splc

c.1095+1G>A

1 paper

NM_017755.6

p.L355P

c.1064T>C

1 paper

NM_017755.6

p.D347V

c.1040A>T