Varaico: Literature-Extracted Genetic Variants

Gene:HENMT1
Variant:p.L42V

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
1 paper
NM_001102592.2
p.L42V
c.124T>G
Surrounding Variants
4 papers
NM_001102592.2
p.V39I
c.115G>A
1 paper
NM_001102592.2
p.Q34*
c.100C>T
1 paper
NM_001102592.2
p.Y32S
c.95A>C
1 paper
NM_001102592.2
p.F16_I25delFs
c.47_75del29
1 paper
NM_001102592.2
p.A24delFs
c.70delC
1 paper
NM_001102592.2
p.F16fs
c.46_47fs
1 paper
NM_001102592.2
p.V12I
c.34G>A
1 paper
NM_001102592.2
p.C8R
c.22T>C
1 paper
NM_001102592.2
p.V51fs
c.151_152fs
1 paper
NM_001102592.2
p.A52S
c.154G>T
5 papers
NM_001102592.2
p.G76R
c.226G>C
5 papers
NM_001102592.2
p.G76R
c.226G>A
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