Varaico: Literature-Extracted Genetic Variants

BUD23

35 papers

RefSeq Summary

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA meth...

Pfam Domains

Methyltransf_11aa 58–159UCSCMethyltransferase domain

WBS_methylTaa 204–279UCSCMethyltransferase involved in Williams-Beuren syndrome

Gene Aliases

HGNC Name

BUD23 rRNA methyltransferase and ribosome maturation factor

HGNC Previous Symbol

WBSCR22

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017528.5

p.G186S

c.556G>A

Surrounding Variants

1 paper

NM_017528.5

p.G185C

c.553G>T

1 paper

NM_017528.5

p.K180R

c.539A>G

1 paper

NM_017528.5

p.T176insFs

c.527dupC

1 paper

NM_017528.5

p.K196R

c.587A>G

1 paper

NM_017528.5

p.E172K

c.514G>A

1 paper

NM_017528.5

p.R226S

c.678G>C

1 paper

NM_017528.5

p.R226S

c.678G>T

2 papers

NM_017528.5

p.R155Q

c.464G>A

1 paper

NM_017528.5

p.R234Splc

c.702-108C>T

1 paper

NM_017528.5

p.S240P

c.718T>C

1 paper

NM_017528.5

p.S240L

c.719C>T

1 paper

NM_017528.5

p.R261H

c.782G>A