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.R474T

c.1421G>C

Surrounding Variants

1 paper

NM_001177306.2

p.S477P

c.1429T>C

1 paper

NM_001177306.2

p.L478I

c.1432T>A

1 paper

NM_001177306.2

p.L478S

c.1433T>C

1 paper

NM_001177306.2

p.R469K

c.1406G>A

1 paper

NM_001177306.2

p.Q480R

c.1439A>G

1 paper

NM_001177306.2

p.T467I

c.1400C>T

1 paper

NM_001177306.2

p.W488*

c.1463G>A

1 paper

NM_001177306.2

p.H459Y

c.1375C>T

3 papers

NM_001177306.2

p.E491D

c.1473A>C

3 papers

NM_001177306.2

p.E491D

c.1473A>T

2 papers

NM_001177306.2

p.D456G

c.1367A>G

2 papers

NM_001177306.2

p.I452V

c.1354A>G