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.V37V

c.111C>A

Surrounding Variants

1 paper

NM_016038.4

p.V37_G38insFs

c.111_112ins14

1 paper

NM_016038.4

p.V37fs

c.109_110fs

1 paper

NM_016038.4

p.G38S

c.112G>A

1 paper

NM_016038.4

p.V36fs

c.106_107fs

8 papers

NM_016038.4

p.V36delFs

c.107delA

4 papers

NM_016038.4

p.V36A

c.107T>C

1 paper

NM_016038.4

p.V36fs

c.106_107fs

1 paper

NM_016038.4

p.K35N

c.105G>C

1 paper

NM_016038.4

p.K35K

c.105G>A

1 paper

NM_016038.4

p.R40G

c.118C>G

1 paper

NM_016038.4

p.R40R

c.118C>A

2 papers

NM_016038.4

p.K35*

c.103A>T