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.K21R

c.62A>G

Surrounding Variants

1 paper

NM_016038.4

p.K21M

c.62A>T

1 paper

NM_016038.4

p.K21N

c.63G>T

3 papers

NM_016038.4

p.K21N

c.63G>C

2 papers

NM_016038.4

p.R22R

c.66T>A

1 paper

NM_016038.4

p.R19_M20insFs

c.57_58ins8

8 papers

NM_016038.4

p.R19Q

c.56G>A

1 paper

NM_016038.4

p.R19W

c.55C>T

2 papers

NM_016038.4

p.G24R

c.70G>C

2 papers

NM_016038.4

p.G24R

c.70G>A

1 paper

NM_016038.4

p.G24E

c.71G>A

1 paper

NM_016038.4

p.V18I

c.52G>A

1 paper

NM_016038.4

p.V17L

c.49G>C