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

14 papers

NM_016038.4

p.R40delFs

c.120delC

Surrounding Variants

1 paper

NM_016038.4

p.S41fs

c.121_122fs

1 paper

NM_016038.4

p.S41C

c.121A>T

1 paper

NM_016038.4

p.S41I

c.122G>T

4 papers

NM_016038.4

p.S41fs

c.121_122fs

4 papers

NM_016038.4

p.S41delFs

c.123delG

1 paper

NM_016038.4

p.R40G

c.118C>G

1 paper

NM_016038.4

p.R40R

c.118C>A

1 paper

NM_016038.4

p.G42G

c.126C>T

10 papers

NM_016038.4

p.V43L

c.127G>T

2 papers

NM_016038.4

p.V43L

c.127G>C

1 paper

NM_016038.4

p.V43M

c.127G>A

1 paper

NM_016038.4

p.G38S

c.112G>A