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

1–12 of 298 variants

20 papers

NM_001177306.2

p.S539W

c.1616C>G

19 papers

NM_001177306.2

p.D563G

c.1688A>G

6 papers

NM_001177306.2

p.T304S

c.910A>T

5 papers

NM_001177306.2

p.R190H

c.569G>A

3 papers

NM_001177306.2

p.V49L

c.145G>C

3 papers

NM_001177306.2

p.V49L

c.145G>T

3 papers

NM_001177306.2

p.T189I

c.566C>T

3 papers

NM_001177306.2

p.P192Q

c.575C>A

3 papers

NM_001177306.2

p.P192R

c.575C>G

3 papers

NM_001177306.2

p.M203V

c.607A>G

3 papers

NM_001177306.2

p.G436S

c.1306G>A

3 papers

NM_001177306.2

p.E491D

c.1473A>C