Varaico: Literature-Extracted Genetic Variants

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

7 papers

NM_001171038.2

p.L326F

c.976C>T

Surrounding Variants

1 paper

NM_001416525.1

p.R291Q

c.872G>A

2 papers

NM_001171038.2

p.R319*

c.955C>T

2 papers

NM_001416525.1

p.E288D

c.864A>C

NM_001171038.2

p.E316D

c.948A>C

2 papers

NM_001416525.1

p.E288D

c.864A>T

NM_001171038.2

p.E316D

c.948A>T

3 papers

NM_001171038.2

p.G306A

c.917G>C

1 paper

NM_001416525.1

p.G276Splc

c.826+1G>T

1 paper

NM_001416525.1

p.C273S

c.818G>C

1 paper

NM_001416525.1

p.C273S

c.817T>A

1 paper

NM_001171038.2

p.Y298H

c.892T>C

1 paper

NM_001171038.2

p.W285*

c.855G>A

2 papers

NM_001416525.1

p.P243L

c.728C>T

NM_001171038.2

p.P271L

c.812C>T

1 paper

NM_001171038.2

p.G263Splc

c.787+22A>T