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

2 papers

NM_016038.4

p.A136A

c.408C>G

Surrounding Variants

1 paper

NM_016038.4

p.K138N

c.414G>T

1 paper

NM_016038.4

p.K138N

c.414G>C

1 paper

NM_016038.4

p.D139_I140insGA

c.415_419ins6

1 paper

NM_016038.4

p.D139N

c.415G>A

1 paper

NM_016038.4

p.E134_R135insC

c.400_404ins3

1 paper

NM_016038.4

p.E134K

c.400G>A

1 paper

NM_016038.4

p.I133T

c.398T>C

1 paper

NM_016038.4

p.L132L

c.396T>C

1 paper

NM_016038.4

p.H141Q

c.423C>G

1 paper

NM_016038.4

p.H141Q

c.423C>A

1 paper

NM_016038.4

p.Y142H

c.424T>C

1 paper

NM_016038.4

p.Y142F

c.425A>T