Varaico: Literature-Extracted Genetic Variants

Gene:SMYD3
Variant:p.C49S

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.C49S
c.145T>A
Surrounding Variants
1 paper
NM_001167740.2
p.C49G
c.145T>G
1 paper
NM_001167740.2
p.C49S
c.146G>C
1 paper
NM_001167740.2
p.V47I
c.139G>A
1 paper
NM_001167740.2
p.R51L
c.152G>T
1 paper
NM_001167740.2
p.L54delFs
c.160_161delAG
1 paper
NM_001167740.2
p.L54del1
c.160_161delGAG
1 paper
NM_001167740.2
p.P35H
c.104C>A
1 paper
NM_001167740.2
p.L30delFs
c.88delG
1 paper
NM_001167740.2
p.L29L
c.87A>T
1 paper
NM_001167740.2
p.G27A
c.80G>C
1 paper
NM_001167740.2
p.P26S
c.76C>T
1 paper
NM_001167740.2
p.L18delFs
c.54delC
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