Varaico: Literature-Extracted Genetic Variants

PAM

460 papers

RefSeq Summary

This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, ...

Pfam Domains

Cu2_monooxygenaa 1–99UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain

Cu2_monooxygenaa 59–175UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain

Cu2_monoox_Caa 195–342UCSCCopper type II ascorbate-dependent monooxygenase, C-terminal domain

NHLaa 471–498UCSCNHL repeat

NHLaa 523–552UCSCNHL repeat

NHLaa 576–604UCSCNHL repeat

Gene Aliases

HGNC Name

peptidylglycine alpha-amidating monooxygenase

HGNC Alias Symbols

PAL; PHM; PAM-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001177306.2

p.H240P

c.719A>C

Surrounding Variants

2 papers

NM_001177306.2

p.H240Y

c.718C>T

1 paper

NM_001177306.2

p.L241I

c.721T>A

1 paper

NM_001177306.2

p.H237Y

c.709C>T

1 paper

NM_001177306.2

p.V236A

c.707T>C

1 paper

NM_001177306.2

p.R235*

c.703A>T

1 paper

NM_001177306.2

p.A233P

c.697G>C

1 paper

NM_001177306.2

p.M229V

c.685A>G

1 paper

NM_001177306.2

p.H223Y

c.667C>T

1 paper

NM_001177306.2

p.D219E

c.657C>A

1 paper

NM_001177306.2

p.D219E

c.657C>G

1 paper

NM_001177306.2

p.V216L

c.646G>C

1 paper

NM_001177306.2

p.V216L

c.646G>T