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.M87I

c.261G>C

Surrounding Variants

1 paper

NM_017528.5

p.M87I

c.261G>A

1 paper

NM_017528.5

p.M87I

c.261G>T

1 paper

NM_017528.5

p.D89N

c.265G>A

1 paper

NM_017528.5

p.G68R

c.202G>A

1 paper

NM_017528.5

p.G68R

c.202G>C

1 paper

NM_017528.5

p.C62S

c.185G>C

1 paper

NM_017528.5

p.A91S

c.271G>T

1 paper

NM_017528.5

p.D99G

c.296A>G

1 paper

NM_017528.5

p.D104Y

c.310G>T

1 paper

NM_017528.5

p.Q107*

c.319C>T

1 paper

NM_017528.5

p.K112R

c.335A>G

1 paper

NM_017528.5

p.D117N

c.349G>A