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.C31F

c.92G>T

Surrounding Variants

1 paper

NM_016038.4

p.C31S

c.92G>C

5 papers

NM_016038.4

p.C31W

c.93C>G

1 paper

NM_016038.4

p.C31*

c.93C>A

8 papers

NM_016038.4

p.Y32C

c.95A>G

3 papers

NM_016038.4

p.A30S

c.88G>T

1 paper

NM_016038.4

p.A30T

c.88G>A

1 paper

NM_016038.4

p.Y32*

c.96C>G

2 papers

NM_016038.4

p.Y32_K33insFs

c.96_97insA

1 paper

NM_016038.4

p.Y32*

c.96C>A

12 papers

NM_016038.4

p.K33E

c.97A>G

1 paper

NM_016038.4

p.I29N

c.86T>A

4 papers

NM_016038.4

p.K33R

c.98A>G