Varaico: Literature-Extracted Genetic Variants

Gene:SMYD2
Variant:p.L129S

SMYD2

64 papers

RefSeq Summary

SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008].

Pfam Domains

SETaa 18–241UCSCSET domain
zf-MYNDaa 52–90UCSCMYND finger

Gene Aliases

HGNC Name

SET and MYND domain containing 2

HGNC Alias Symbols

HSKM-B; ZMYND14; KMT3C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020197.3
p.L129S
c.386T>C
Surrounding Variants
2 papers
NM_020197.3
p.S125L
c.374C>T
1 paper
NM_020197.3
p.I118_H119delFs
c.354_355delCC
1 paper
NM_020197.3
p.K117R
c.350A>G
1 paper
NM_020197.3
p.A154T
c.460G>A
12 papers
NM_020197.3
p.G165E
c.494G>A
1 paper
NM_020197.3
p.F166S
c.497T>C
1 paper
NM_020197.3
p.I112T
c.335T>C
1 paper
NM_020197.3
p.N99fs
c.295_296fs
1 paper
NM_020197.3
p.M93T
c.278T>C
1 paper
NM_020197.3
p.C90S
c.269G>C
1 paper
NM_020197.3
p.C90S
c.268T>A
1 paper
NM_020197.3
p.H86_K87insG
c.256_260ins3
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