Varaico: Literature-Extracted Genetic Variants

Gene:SEPSECS
Variant:p.K38delFs

SEPSECS

147 papers

RefSeq Summary

The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encode...

Pfam Domains

SepSecSaa 61–459UCSCO-phosphoseryl-tRNA(Sec) selenium transferase, SepSecS

Gene Aliases

HGNC Name

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

HGNC Alias Symbols

SLA/LP; SLA-p35; SecS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016955.4
p.K38delFs
c.112delT
Surrounding Variants
1 paper
NM_016955.4
p.K38M
c.113A>T
9 papers
NM_016955.4
p.K38_G39Splc
c.114+3A>G
1 paper
NM_016955.4
p.K38_G39Splc
c.114+22C>T
1 paper
NM_016955.4
p.H28H
c.84T>C
7 papers
NM_016955.4
p.R26delFs
c.77delC
6 papers
NM_016955.4
p.R26fs
c.76_77fs
1 paper
NM_016955.4
p.A24P
c.70G>C
1 paper
NM_016955.4
p.E23A
c.68A>C
1 paper
NM_016955.4
p.G21R
c.61G>C
1 paper
NM_016955.4
p.Q20H
c.60G>T
1 paper
NM_016955.4
p.Q20H
c.60G>C
2 papers
NM_016955.4
p.V13G
c.38T>G
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