Varaico: Literature-Extracted Genetic Variants

Gene:SLFN14

SLFN14

74 papers

RefSeq Summary

The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016...

Pfam Domains

B3Raa 83–204UCSCPoxviridae B3 protein
SLFN_AlbA_2aa 206–340UCSCSchlafen, AlbA_2
SLFN_GTPase-likeaa 400–535UCSCSchlafen, GTPase-like domain

Gene Aliases

HGNC Name

schlafen family member 14

Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
20 papers
NM_001129820.2
p.K218E
c.652A>G
17 papers
NM_001129820.2
p.V220D
c.659T>A
16 papers
NM_001129820.2
p.K219N
c.657A>T
16 papers
NM_001129820.2
p.K219N
c.657A>C
14 papers
NM_001129820.2
p.R223W
c.667C>T
4 papers
NM_001129820.2
p.K219E
c.655A>G
4 papers
NM_001129820.2
p.A852insFs
c.2556dupC
3 papers
NM_001129820.2
p.V172A
c.515T>C
3 papers
NM_001129820.2
p.D249A
c.746A>C
3 papers
NM_001129820.2
p.P356S
c.1066C>T
2 papers
NM_001129820.2
p.E206A
c.617A>C
2 papers
NM_001129820.2
p.E211A
c.632A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."