Varaico: Literature-Extracted Genetic Variants

Gene:HENMT1
Variant:p.R85*

HENMT1

50 papers

Pfam Domains

Methyltransf_23aa 29–202UCSCMethyltransferase domain
HENMT1_Caa 265–383UCSCHENMT1 C-terminal domain

Gene Aliases

HGNC Name

HEN methyltransferase 1

HGNC Previous Symbol

C1orf59

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001102592.2
p.R85*
c.253C>T
Surrounding Variants
1 paper
NM_001102592.2
p.R87K
c.260G>A
5 papers
NM_001102592.2
p.G76R
c.226G>C
5 papers
NM_001102592.2
p.G76R
c.226G>A
1 paper
NM_001102592.2
p.G88Splc
c.263+65G>C
1 paper
NM_001102592.2
p.A52S
c.154G>T
1 paper
NM_001102592.2
p.V51fs
c.151_152fs
1 paper
NM_001102592.2
p.R102W
c.304C>T
2 papers
NM_001102592.2
p.N105H
c.313A>C
1 paper
NM_001102592.2
p.Y111F
c.332A>T
1 paper
NM_001102592.2
p.D126Y
c.376G>T
1 paper
NM_001102592.2
p.L42V
c.124T>G
4 papers
NM_001102592.2
p.V39I
c.115G>A
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