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.S96*

c.287C>G

Surrounding Variants

1 paper

NM_016038.4

p.S96*

c.287C>A

2 papers

NM_016038.4

p.S96_D97insA

c.286_290ins3

1 paper

NM_016038.4

p.V95del1

c.283_284delTAC

3 papers

NM_016038.4

p.V95G

c.284T>G

1 paper

NM_016038.4

p.V95E

c.284T>A

1 paper

NM_016038.4

p.Q94delFs

c.281_282delTT

2 papers

NM_016038.4

p.K98R

c.293A>G

1 paper

NM_016038.4

p.D97_K98delFs

c.289_292del4

1 paper

NM_016038.4

p.Q94*

c.280C>T

1 paper

NM_016038.4

p.Q94K

c.280C>A

1 paper

NM_016038.4

p.Q94fs

c.280_281fs

1 paper

NM_016038.4

p.E99Q

c.295G>C