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

1–12 of 52 variants

4 papers

NM_148956.4

p.R295C

c.883C>T

3 papers

NM_148956.4

p.K65del1

c.193_194delCTT

2 papers

NM_148956.4

p.G19D

c.56G>A

2 papers

NM_148956.4

p.D148N

c.442G>A

1 paper

NM_148956.4

p.A5T

c.13G>A

1 paper

NM_148956.4

p.K22E

c.64A>G

1 paper

NM_148956.4

p.K22delFs

c.65delT

1 paper

NM_148956.4

p.Q31_N32Splc

c.93+70G>A

1 paper

NM_148956.4

p.V33M

c.97G>A

1 paper

NM_148956.4

p.V33G

c.98T>G

1 paper

NM_148956.4

p.S47F

c.140C>T

1 paper

NM_148956.4

p.S56N

c.167G>A