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

2 papers

NM_148956.4

p.D148N

c.442G>A

Surrounding Variants

1 paper

NM_148956.4

p.D149G

c.446A>G

1 paper

NM_148956.4

p.G158R

c.472G>C

1 paper

NM_148956.4

p.L134L

c.400C>T

1 paper

NM_148956.4

p.V124A

c.371T>C

1 paper

NM_148956.4

p.R117W

c.349C>T

1 paper

NM_148956.4

p.R113W

c.337C>T

1 paper

NM_148956.4

p.R113R

c.337C>A

1 paper

NM_148956.4

p.R108R

c.324G>T

1 paper

NM_148956.4

p.A100S

c.298G>T

1 paper

NM_148956.4

p.G81fs

c.241_242fs

1 paper

NM_148956.4

p.K72_V73Splc

c.217-84G>T

1 paper

NM_148956.4

p.K72_V73Splc

c.216+35G>A