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.D213delFs

c.637_638delTC

Surrounding Variants

1 paper

NM_016038.4

p.I212_D213delins

c.635_638delinsAACATACCTGTTT

1 paper

NM_016038.4

p.I212insFs

c.636dupT

3 papers

NM_016038.4

p.P214L

c.641C>T

1 paper

NM_016038.4

p.P214Q

c.641C>A

2 papers

NM_016038.4

p.I212insFs

c.634_635ins11

1 paper

NM_016038.4

p.I212S

c.635T>G

18 papers

NM_016038.4

p.I212T

c.635T>C

1 paper

NM_016038.4

p.L211fs

c.631_632fs

1 paper

NM_016038.4

p.L211R

c.632T>G

1 paper

NM_016038.4

p.C210F

c.629G>T

3 papers

NM_016038.4

p.F217F

c.651C>T

8 papers

NM_016038.4

p.R218*

c.652C>T