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.C181S

c.541T>A

Surrounding Variants

1 paper

NM_001177306.2

p.G183R

c.547G>C

2 papers

NM_001177306.2

p.V184L

c.550G>T

1 paper

NM_001177306.2

p.N177I

c.530A>T

1 paper

NM_001177306.2

p.D176G

c.527A>G

3 papers

NM_001177306.2

p.T189I

c.566C>T

5 papers

NM_001177306.2

p.R190H

c.569G>A

3 papers

NM_001177306.2

p.P192Q

c.575C>A

3 papers

NM_001177306.2

p.P192R

c.575C>G

2 papers

NM_001177306.2

p.P192L

c.575C>T

2 papers

NM_001177306.2

p.P192Splc

c.575+1G>A

1 paper

NM_001177306.2

p.Y200*

c.600C>A

1 paper

NM_001177306.2

p.Y200*

c.600C>G