Varaico: Literature-Extracted Genetic Variants

NSUN5

50 papers

RefSeq Summary

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in William...

Pfam Domains

NSUN5_Naa 34–122UCSCNOL1/NOP2/Sun domain family member 5, N-terminal domain

NSUN5_fdxn-likeaa 134–211UCSCNOL1/NOP2/Sun domain family member 5, ferredoxin-like domain

Methyltr_RsmB-Faa 219–423UCSC16S rRNA methyltransferase RsmB/F

Gene Aliases

HGNC Name

NOP2/Sun RNA methyltransferase 5

HGNC Previous Symbols

WBSCR20; WBSCR20A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_148956.4

p.R295C

c.883C>T

Surrounding Variants

1 paper

NM_148956.4

p.C308S

c.922T>A

1 paper

NM_148956.4

p.C308S

c.923G>C

1 paper

NM_148956.4

p.G310D

c.929G>A

1 paper

NM_148956.4

p.G275D

c.824G>A

1 paper

NM_148956.4

p.T269M

c.806C>T

1 paper

NM_148956.4

p.M267V

c.799A>G

1 paper

NM_148956.4

p.S327C

c.979A>T

1 paper

NM_148956.4

p.A345A

c.1035A>G

1 paper

NM_148956.4

p.C359S

c.1075T>A

1 paper

NM_148956.4

p.C359S

c.1076G>C

1 paper

NM_148956.4

p.L244F

c.732G>T

1 paper

NM_148956.4

p.L244F

c.732G>C