Varaico: Literature-Extracted Genetic Variants

Gene:SLFN14
Variant:p.Q93R

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
Selected Variant
1 paper
NM_001129820.2
p.Q93R
c.278A>G
Surrounding Variants
1 paper
NM_001129820.2
p.D115A
c.344A>C
1 paper
NM_001129820.2
p.R133K
c.398G>A
1 paper
NM_001129820.2
p.F155L
c.463T>C
1 paper
NM_001129820.2
p.F155L
c.465T>G
1 paper
NM_001129820.2
p.F155L
c.465T>A
1 paper
NM_001129820.2
p.R21T
c.62G>C
3 papers
NM_001129820.2
p.V172A
c.515T>C
1 paper
NM_001129820.2
p.Y12H
c.34T>C
1 paper
NM_001129820.2
p.E2_K5del4
c.4_14del12
1 paper
NM_001129820.2
p.M1_E2delFs
c.2_5del4
1 paper
NM_001129820.2
p.E206Q
c.616G>C
2 papers
NM_001129820.2
p.E206A
c.617A>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."