Varaico: Literature-Extracted Genetic Variants

ASMTL

69 papers

RefSeq Summary

The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is...

Pfam Domains

Mafaa 14–211UCSCMaf-like protein

Dimerisationaa 289–367UCSCO-methyltransferase dimerisation domain

Methyltransf_2aa 388–600UCSCO-methyltransferase domain

Gene Aliases

HGNC Name

acetylserotonin O-methyltransferase like

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004192.4

p.G549Splc

c.1646-2A>C

Surrounding Variants

1 paper

NM_004192.4

p.Q579H

c.1737G>C

2 papers

NM_004192.4

p.*622fs

c.1864_1865fs

5 papers

NM_004192.4

p.*622delFs

c.1864delA

3 papers

NM_004192.4

p.*622fs

c.1864_1865fs

2 papers

NM_004192.4

p.R541K

c.1622G>A

2 papers

NM_004192.4

p.C524S

c.1571G>C

2 papers

NM_004192.4

p.C524S

c.1570T>A

1 paper

NM_004192.4

p.V522A

c.1565T>C

1 paper

NM_004192.4

p.L520delFs

c.1559delA

1 paper

NM_004192.4

p.D513G

c.1538A>G