Varaico: Literature-Extracted Genetic Variants

Gene:SLFN14
Variant:p.P356S

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
3 papers
NM_001129820.2
p.P356S
c.1066C>T
Surrounding Variants
1 paper
NM_001129820.2
p.P355S
c.1063C>T
2 papers
NM_001129820.2
p.K385E
c.1153A>G
1 paper
NM_001129820.2
p.E400Q
c.1198G>C
1 paper
NM_001129820.2
p.K450E
c.1348A>G
1 paper
NM_001129820.2
p.N453S
c.1358A>G
2 papers
NM_001129820.2
p.R486*
c.1456C>T
1 paper
NM_001129820.2
p.T498I
c.1493C>T
2 papers
NM_001129820.2
p.K505*
c.1513A>T
1 paper
NM_001129820.2
p.S516delins
c.1546_1547delinsAG
1 paper
NM_001129820.2
p.P526S
c.1576C>T
1 paper
NM_001129820.2
p.P530R
c.1589C>G
1 paper
NM_001129820.2
p.L544F
c.1632G>T
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