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.C84fs

c.250_251fs

Surrounding Variants

6 papers

NM_016038.4

p.C84R

c.250T>C

1 paper

NM_016038.4

p.C84S

c.250T>A

1 paper

NM_016038.4

p.C84S

c.251G>C

1 paper

NM_016038.4

p.I83M

c.249C>G

15 papers

NM_016038.4

p.C84fs

c.250_251fs

1 paper

NM_016038.4

p.C84*

c.252T>A

2 papers

NM_016038.4

p.I83V

c.247A>G

1 paper

NM_016038.4

p.E82delFs

c.244_245delTC

1 paper

NM_016038.4

p.E82K

c.244G>A

2 papers

NM_016038.4

p.T81S

c.242C>G

11 papers

NM_016038.4

p.Q86_I87Splc

c.258+1G>C

1 paper

NM_016038.4

p.T81S

c.241A>T