Varaico: Literature-Extracted Genetic Variants

Gene:SMYD3
Variant:p.H83L

SMYD3

83 papers

RefSeq Summary

This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms ha...

Pfam Domains

SETaa 15–240UCSCSET domain
zf-MYNDaa 49–87UCSCMYND finger
zf-MYNDaa 49–87UCSCMYND finger

Gene Aliases

HGNC Name

SET and MYND domain containing 3

HGNC Previous Symbol

ZNFN3A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001167740.2
p.H83L
c.248A>T
Surrounding Variants
1 paper
NM_001167740.2
p.R85W
c.253C>T
1 paper
NM_001167740.2
p.A79fs
c.235_236fs
1 paper
NM_001167740.2
p.C87G
c.259T>G
1 paper
NM_001167740.2
p.A79delFs
c.235delC
1 paper
NM_001167740.2
p.K88N
c.264A>T
1 paper
NM_001167740.2
p.K88N
c.264A>C
1 paper
NM_001167740.2
p.C89delFs
c.265delA
1 paper
NM_001167740.2
p.C89fs
c.265_266fs
1 paper
NM_001167740.2
p.K94E
c.280A>G
1 paper
NM_001167740.2
p.S101A
c.301T>G
1 paper
NM_001167740.2
p.S101P
c.301T>C
1 paper
NM_001167740.2
p.G106S
c.316G>A
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