Varaico: Literature-Extracted Genetic Variants

Gene:ASMT
Variant:p.N13H

ASMT

54 papers

RefSeq Summary

This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the fin...

Pfam Domains

Dimerisationaa 13–96UCSCO-methyltransferase dimerisation domain
Methyltransf_2aa 117–327UCSCO-methyltransferase domain

Gene Aliases

HGNC Name

acetylserotonin O-methyltransferase

HGNC Alias Symbols

HIOMT; ASMTY; HIOMTY

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001171038.2
p.N13H
c.37A>C
Surrounding Variants
2 papers
NM_001171038.2
p.L11F
c.31C>T
1 paper
NM_001171038.2
p.Y15S
c.44A>C
1 paper
NM_001171038.2
p.Y15Y
c.45C>T
1 paper
NM_001171038.2
p.R10C
c.28C>T
1 paper
NM_001171038.2
p.Y9C
c.26A>G
1 paper
NM_001171038.2
p.N17I
c.50A>T
10 papers
NM_001171038.2
p.N17K
c.51C>A
9 papers
NM_001171038.2
p.N17K
c.51C>G
1 paper
NM_001171038.2
p.S4*
c.11C>G
1 paper
NM_001171038.2
p.Q23Q
c.69G>A
1 paper
NM_001171038.2
p.A28T
c.82G>A
1 paper
NM_001171038.2
p.G32D
c.95G>A
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