Varaico: Literature-Extracted Genetic Variants

Gene:SMYD2
Variant:p.Y240S

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.Y240S
c.719A>C
Surrounding Variants
1 paper
NM_020197.3
p.Y240C
c.719A>G
2 papers
NM_020197.3
p.Y240F
c.719A>T
1 paper
NM_020197.3
p.Y245F
c.734A>T
1 paper
NM_020197.3
p.R253Q
c.758G>A
1 paper
NM_020197.3
p.C264S
c.790T>A
1 paper
NM_020197.3
p.C264S
c.791G>C
1 paper
NM_020197.3
p.K274N
c.822G>C
1 paper
NM_020197.3
p.K274N
c.822G>T
1 paper
NM_020197.3
p.L282H
c.845T>A
1 paper
NM_020197.3
p.R299C
c.895C>T
2 papers
NM_020197.3
p.R299H
c.896G>A
2 papers
NM_020197.3
p.V301I
c.901G>A
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