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.T81S

c.241A>T

Surrounding Variants

2 papers

NM_016038.4

p.T81A

c.241A>G

1 paper

NM_016038.4

p.T81P

c.241A>C

2 papers

NM_016038.4

p.T81S

c.242C>G

1 paper

NM_016038.4

p.Q80H

c.240A>C

1 paper

NM_016038.4

p.E82K

c.244G>A

1 paper

NM_016038.4

p.Q80*

c.238C>T

1 paper

NM_016038.4

p.D79D

c.237C>T

1 paper

NM_016038.4

p.E82delFs

c.244_245delTC

2 papers

NM_016038.4

p.I83V

c.247A>G

1 paper

NM_016038.4

p.I83M

c.249C>G

1 paper

NM_016038.4

p.D78V

c.233A>T

6 papers

NM_016038.4

p.C84R

c.250T>C