Varaico: Literature-Extracted Genetic Variants

SBDS

500 papers

RefSeq Summary

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiati...

Pfam Domains

SBDS_Naa 14–101UCSCShwachman-Bodian-Diamond syndrome (SBDS) N-terminal domain

SBDS_domain_IIaa 109–170UCSCSBDS protein, domain II

SBDS_Caa 172–239UCSCSBDS protein, C-terminal domain

Gene Aliases

HGNC Name

SBDS ribosome maturation factor

HGNC Alias Symbols

CGI-97; FLJ10917; SWDS; SDO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016038.4

p.E105*

c.313G>T

Surrounding Variants

1 paper

NM_016038.4

p.Q106R

c.317A>G

3 papers

NM_016038.4

p.Q103fs

c.307_308fs

4 papers

NM_016038.4

p.Q103delFs

c.307_308delTG

1 paper

NM_016038.4

p.Q106H

c.318G>C

1 paper

NM_016038.4

p.M107L

c.319A>T

1 paper

NM_016038.4

p.T102K

c.305C>A

1 paper

NM_016038.4

p.F108V

c.322T>G

5 papers

NM_016038.4

p.K98_E99delFs

c.292_295del4

1 paper

NM_016038.4

p.R109W

c.325A>T

1 paper

NM_016038.4

p.R109R

c.327G>A

1 paper

NM_016038.4

p.R100K

c.299G>A

1 paper

NM_016038.4

p.D110Y

c.328G>T