Varaico: Literature-Extracted Genetic Variants

Gene:SLFN14
Variant:p.A852insFs

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
4 papers
NM_001129820.2
p.A852insFs
c.2556dupC
Surrounding Variants
1 paper
NM_001129820.2
p.T853fs
c.2557_2558fs
1 paper
NM_001129820.2
p.T853fs
c.2557_2558fs
1 paper
NM_001129820.2
p.P851L
c.2552C>T
1 paper
NM_001129820.2
p.R827C
c.2479C>T
1 paper
NM_001129820.2
p.D824E
c.2472C>G
1 paper
NM_001129820.2
p.D824E
c.2472C>A
1 paper
NM_001129820.2
p.E887G
c.2660A>G
1 paper
NM_001129820.2
p.L905F
c.2713C>T
1 paper
NM_001129820.2
p.I794T
c.2381T>C
2 papers
NM_001129820.2
p.Y912F
c.2735A>T
1 paper
NM_001129820.2
p.E751*
c.2251G>T
1 paper
NM_001129820.2
p.E744Q
c.2230G>C
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